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x-linked ichthyosis - inherited skin disease with thickened scaly skin
Definition for X-linked ichthyosis
X-linked ichthyosis is an inborn error of metabolism characterized by a deficiency in microsomal sulfatase (steroid sulfatase).
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X-linked ichthyosis is an inborn error of metabolism characterized by a deficiency in microsomal sulfatase (steroid sulfatase). It is also referred to as placental sulfatase deficiency.
The genetic locus for the steroid sulfatase gene has been mapped to the distal short arm of the x chromosome (Xp22.32). Affected individuals, usually male, develop ichthyosis in the form of hyperkeratosis after birth, sometimes associated with pyloric stenosis, cryptorchism, or corneal opacities.
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some common symptoms
scaly patches on skin
scaly scalp
some related diagnoses
1 - 5 of
5
diagnoses
seborrheic dermatitis
atopic dermatitis
psoriasis
pityriasis rubra pilaris
lichen planus
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do i have 'X-linked ichthyosis'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'x-linked ichthyosis'
1 - 5 of
20
diagnostic tests
Fluorescent in situ hybridization (FISH)
X-linked ichthyosis and Fluorescent in situ hybridization (FISH)
Molecular Genetic Studies
X-linked ichthyosis and Molecular Genetic Studies
Polymerase Chain Reaction (PCR)
X-linked ichthyosis and Polymerase Chain Reaction (PCR)
vision tests
X-linked ichthyosis and vision tests
Southern blot test
X-linked ichthyosis and Southern blot test
Placental steroid sulphatase (STS)
X-linked ichthyosis and Placental steroid sulphatase (STS)
Steroid sulphatase activity (STS) activity in keratinocytes
X-linked ichthyosis and Steroid sulphatase activity (STS) activity in keratinocytes
Steroid sulphatase activity (STS) activity in lymphocytes
X-linked ichthyosis and Steroid sulphatase activity (STS) activity in lymphocytes
Steroid sulphatase activity (STS) activity in skin fibroblasts
X-linked ichthyosis and Steroid sulphatase activity (STS) activity in skin fibroblasts
Biopsy skin
X-linked ichthyosis and Biopsy skin
nonhydrolyzed sulfated steroids in maternal urine
X-linked ichthyosis and nonhydrolyzed sulfated steroids in maternal urine
serum arylsulfatase C
X-linked ichthyosis and serum arylsulfatase C
testicular self exam
X-linked ichthyosis and testicular self exam
Amniocentesis
X-linked ichthyosis and Amniocentesis
Chorionic Villus Sampling (CVS)
X-linked ichthyosis and Chorionic Villus Sampling (CVS)
Comprehensive eye exam
X-linked ichthyosis and Comprehensive eye exam
cultured skin fibroblasts for biochemical study
X-linked ichthyosis and cultured skin fibroblasts for biochemical study
direct enzymatic assay in fibroblasts
X-linked ichthyosis and direct enzymatic assay in fibroblasts
direct enzymatic assay in white blood cells
X-linked ichthyosis and direct enzymatic assay in white blood cells
maternal serum unconjugated estriol
X-linked ichthyosis and maternal serum unconjugated estriol
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therapeutic procedures for 'X-linked ichthyosis'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for X-linked ichthyosis:
therapeutic procedure search results for 'x-linked ichthyosis'
rankings are computer generated. please consult your health care provider.
medications search results for 'x-linked ichthyosis'
1 - 1 of
1
medications
rankings are computer generated. please consult your health care provider.
Ammonium lactate
X-linked ichthyosis and Ammonium lactate
web search results for x-linked ichthyosis
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1 - 50
- X-linked ichthyosis
X-linked ichthyosis and X-linked placental sulfatase deficiency: a ...
X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. ... All boys developed well except for X-linked ichthyosis. ...
http://www.ncbi.nlm.nih.gov/pubmed/6929654
www.ncbi.nlm.nih.gov
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summary
X-linked ichthyosis - Wikipedia, the free encyclopedia
Online 'Mendelian Inheritance in Man' (OMIM) ICHTHYOSIS, X-LINKED -308100 ... Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis" ...
http://en.wikipedia.org/wiki/X-linked_ichthyosis
en.wikipedia.org
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summary
PCR diagnosis of X-linked ichthyosis: identification of a novel ...
PCR diagnosis of X-linked ichthyosis: identification of a novel mutation (E560P) ... X-linked ichthyosis (XLI) is an inherited skin disorder due to deficiency of ...
http://www.ncbi.nlm.nih.gov/pubmed/10679952
www.ncbi.nlm.nih.gov
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summary
X-linked ichthyosis (steroid sulfatase deficiency) is associated with ...
BACKGROUND: X-linked ichthyosis (XLI) (steroid sulfatase deficiency) is caused ... Ichthyosis, X-Linked/genetics* Male. Steryl-Sulfatase/deficiency. Steryl ...
http://www.ncbi.nlm.nih.gov/pubmed/18413370?ordinalpos=83&it...
www.ncbi.nlm.nih.gov
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A model of corrective gene transfer in X-linked ichthyosis.
We have utilized X-linked ichthyosis (XLI), characterized by loss of function of ... Ichthyosis, X-Linked/genetics* Keratinocytes/cytology. Keratinocytes ...
http://www.ncbi.nlm.nih.gov/pubmed/9175741
www.ncbi.nlm.nih.gov
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summary
Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican ...
Deletion pattern of the STS gene in X-linked ichthyosis in a Mexican population. ... BACKGROUND: X-linked ichthyosis (XLI) is an inherited disorder due to steroid ...
http://www.ncbi.nlm.nih.gov/pubmed/11844872
www.ncbi.nlm.nih.gov
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X/Y translocation in a family with X-linked ichthyosis ...
... in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental ... both patients showed ichthyosis, mental retardation and dysmorphic ...
http://www.ncbi.nlm.nih.gov/pubmed/3165728
www.ncbi.nlm.nih.gov
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Ichthyosis, X Linked - Yahoo! Health
... that the main title of the report Ichthyosis, X Linked is not the name you expected. ... X-linked ichthyosis is a genetic skin disorder that affects males. ...
http://health.yahoo.com/skinconditions-resources/ichthyosis-...
health.yahoo.com
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Ichthyosis: Cornification Disorders: Merck Manual Professional
X-linked ichthyosis. X-linked. 1:6000 (males) Birth or infancy. Large, ... treatments) is effective in X-linked ichthyosis and epidermolytic hyperkeratosis. ...
http://www.merck.com/mmpe/sec10/ch113/ch113c.html
www.merck.com
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Ichthyosis, X Linked
... that the main title of the report Ichthyosis, X Linked is not the name you expected. ... X-linked ichthyosis is a genetic skin disorder that affects males. ...
http://www.webmd.com/skin-problems-and-treatments/ichthyosis-x-linked
www.webmd.com
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Talk:X-linked ichthyosis - Wikipedia, the free encyclopedia
Talk:X-linked ichthyosis. From Wikipedia, the free encyclopedia. Jump to: navigation, search ... edit · history · watch · refresh To-do list for X-linked ichthyosis: ...
http://en.wikipedia.org/wiki/Talk:X-linked_ichthyosis
en.wikipedia.org
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Ichthyosis vulgaris: Symptoms - MayoClinic.com
Ichthyosis vulgaris ? Comprehensive overview covers signs, ... X-linked ichthyosis. Starting soon after birth, this type of ichthyosis occurs only in males. ...
http://www.mayoclinic.com/health/ichthyosis-vulgaris/DS00734/DSECTION=symptoms
www.mayoclinic.com
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Ichthyosis
... It is possible that the main title of the report Ichthyosis is not the name you expected. Please check the synonyms ... X-linked ichthyosis. General Discussion ...
http://www.webmd.com/skin-problems-and-treatments/ichthyosis-10777
www.webmd.com
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summary
Ichthyosis - Wikipedia, the free encyclopedia
Ichthyosis vulgaris. X-linked ichthyosis. Congenital ichthyosiform erythroderma (nbCIE) ... X-linked ichthyosis. Epidermolysis bullosa ...
http://en.wikipedia.org/wiki/Ichthyosis
en.wikipedia.org
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Ichthyosis - Yahoo! Health
... It is possible that the main title of the report Ichthyosis is not the name you expected. Please check the synonyms ... X-linked ichthyosis. General Discussion ...
http://health.yahoo.com/skinconditions-resources/ichthyosis/...
health.yahoo.com
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STS - NextBio
STS: The protein encoded by this gene catalyzes the conversion of ... X-linked ichthyosis. DICER1 gene. Blood. Plasma cell leukemia. TNFSF11 gene. B lymphocyte ...
http://www.nextbio.com/b/home/home.nb?q=STS
www.nextbio.com
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KALLMANN SYNDROME - Pedbase.org
An x-linked disorder characterized by a GnRH deficiency ... may be associated with other x-linked disorders. steroid sulfatase deficiency (x-linked ichthyosis) ...
http://pedbase.org/k/kallmann-syndrome/
pedbase.org
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Harlequin type ichthyosis - Wikipedia, the free encyclopedia
"Harlequin Ichthyosis" ... The pathogenesis of severe congenital ichthyosis of the neonate". J Dermatol Sci. ... X-linked ichthyosis. Epidermolysis bullosa ...
http://en.wikipedia.org/wiki/Harlequin_type_ichthyosis
en.wikipedia.org
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X-linked recessive - Wikipedia, the free encyclopedia
X-linked agammaglobulinemia (XLA) X-linked ichthyosis ... Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis ...
http://en.wikipedia.org/wiki/X-linked_recessive
en.wikipedia.org
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summary
Novel point mutations in the steroid sulfatase gene in patients with ...
X-linked ichthyosis is caused by steroid sulfatase deficiency which results from ... The majority of X-linked ichthyosis patients ( approximately 90%) have complete ...
http://www.ncbi.nlm.nih.gov/pubmed/10844566
www.ncbi.nlm.nih.gov
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summary
Carrier identification by FISH analysis in isolated cases of X-linked ...
Carrier identification by FISH analysis in isolated cases of X-linked ichthyosis. ... X-linked ichthyosis (XLI) is an inborn error of metabolism due to steroid ...
http://www.ncbi.nlm.nih.gov/pubmed/11477606
www.ncbi.nlm.nih.gov
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summary
Ichthyosis lamellaris - Wikipedia, the free encyclopedia
Ichthyosis. Congenital ichthyosiform erythrodema. Bullous congenital ichthyosiform erythroderma ... X-linked ichthyosis. Epidermolysis bullosa ...
http://en.wikipedia.org/wiki/Ichthyosis_lamellaris
en.wikipedia.org
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summary
Deletions of the steroid sulphatase gene in "classical" X-linked ...
... in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with ... (STS) deficiency, which is the basic defect of X-linked ichthyosis (XLI) ...
http://www.ncbi.nlm.nih.gov/pubmed/3480263
www.ncbi.nlm.nih.gov
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summary
Ichthyosis vulgaris - Wikipedia, the free encyclopedia
Ichthyosis vulgaris is a skin disorder causing dry, scaly skin. ... Photographs from Ichthyosis Information. v ? d ? e ... X-linked ichthyosis. Epidermolysis bullosa ...
http://en.wikipedia.org/wiki/Ichthyosis_vulgaris
en.wikipedia.org
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WebMD Health A-Z - Find reliable health and medical information on ...
Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... X-linked Ichthyosis. Recklinghausen's ...
http://www.webmd.com/a-to-z-guides/health-topics/ra-re.htm
www.webmd.com
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Characterization of point mutations in patients with X-linked ...
Characterization of point mutations in patients with X-linked ichthyosis. ... X-linked ichthyosis is the result of steroid sulfatase (STS) deficiency. ...
http://www.ncbi.nlm.nih.gov/pubmed/9252398
www.ncbi.nlm.nih.gov
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X-Linked mental retardation - Wikipedia, the free encyclopedia
High-resolution genomic microarrays for X-linked mental retardation" ... Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis ...
http://en.wikipedia.org/wiki/X-Linked_mental_retardation
en.wikipedia.org
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X-linked agammaglobulinemia - Wikipedia, the free encyclopedia
x-linked: X-SCID ... X-Linked mental retardation: Coffin-Lowry ... Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis ...
http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia
en.wikipedia.org
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summary
Identification of point mutations in the steroid sulfatase gene of ...
X-linked ichthyosis (XLI) is an inborn error of metabolism caused by steroid ... Ichthyosis, X-Linked/genetics* Molecular Probe Techniques. Molecular Sequence Data ...
http://www.ncbi.nlm.nih.gov/pubmed/1539590
www.ncbi.nlm.nih.gov
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summary
Placental sulfatase deficiency: maternal and fetal expression of ...
... and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis. ... PSD-X-linked ichthyosis are manifestations of a similar disorder of an inborn ...
http://www.ncbi.nlm.nih.gov/pubmed/3531932
www.ncbi.nlm.nih.gov
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summary
Steroid sulfatase of human leukocytes and epidermis and the diagnosis ...
... leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis. ... Patients with recessive X-linked ichthyosis, one of the inherited types of ...
http://www.ncbi.nlm.nih.gov/pubmed/6939689
www.ncbi.nlm.nih.gov
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Ichthyosis: etiology, diagnosis, and management.
Lamellar ichthyosis is characterized by dark, plate (armor)-like scale. ... X-linked ichthyosis, due to a defect in the enzyme steroid sulfatase, affects ...
http://www.ncbi.nlm.nih.gov/pubmed/12553849
www.ncbi.nlm.nih.gov
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Ichthyosis: mechanisms of disease.
... using ichthyosis vulgaris and recessive X-linked ichthyosis as examples. ... ichthyosis; that is, from the massive, constrictive hyperkeratosis of the ...
http://www.ncbi.nlm.nih.gov/pubmed/1492060
www.ncbi.nlm.nih.gov
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New Descriptors by Tree Subcategory - 2007
Hypophosphatemic Rickets, X-Linked Dominant. Nephrolithiasis. Nocturnal Enuresis ... Hypophosphatemic Rickets, X-Linked Dominant. Ichthyosis Bullosa of Siemens ...
http://www.nlm.nih.gov/mesh/newbysub2007.html
www.nlm.nih.gov
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308100
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=308100
www.ncbi.nlm.nih.gov
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Basis for abnormal desquamation and permeability barrier dysfunction in ...
... sulfatase (SSase), are responsible for recessive x-linked ichthyosis (RXLI) ... Ichthyosis, X-Linked/genetics* Ichthyosis, X-Linked/metabolism* Ichthyosis, ...
http://www.ncbi.nlm.nih.gov/pubmed/15009711
www.ncbi.nlm.nih.gov
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summary
Deletion of VCX-A due to NAHR plays a major role in the occurrence of ...
... in the occurrence of mental retardation in patients with X-linked ichthyosis. ... X-linked ichthyosis (XLI) is often associated with a recurrent microdeletion at ...
http://www.ncbi.nlm.nih.gov/pubmed/15888481
www.ncbi.nlm.nih.gov
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Further evidence for the assignment of the steroid sulfatase X-linked ...
... assignment of the steroid sulfatase X-linked ichthyosis locus to the telomer of Xp. ... Ichthyosis/genetics. Male. Sex Chromosomes/ultrastructure* Steryl ...
http://www.ncbi.nlm.nih.gov/pubmed/6948769
www.ncbi.nlm.nih.gov
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summary
The biochemical identification of carrier state in mothers of sporadic ...
... of carrier state in mothers of sporadic cases of X-linked recessive ichthyosis. ... X-linked recessive ichthyosis (XLI) is an inherited inborn error of metabolism ...
http://www.ncbi.nlm.nih.gov/pubmed/7546451
www.ncbi.nlm.nih.gov
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Ocular Albinism, X-Linked -- GeneReviews -- NCBI Bookshelf
X-linked inheritance is documented by either a family history consistent with ... XLOA may be associated with X-linked ichthyosis [Schnur et al 1989], Kallmann ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-oa
www.ncbi.nlm.nih.gov
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A human sex-chromosomal gene family expressed in male germ cells and ...
... results in STS deletion, which is manifested clinically as X-linked ichthyosis. ... X-linked ichthyosis: it results from aberrant recombination between VCX gene ...
http://www.ncbi.nlm.nih.gov/pubmed/10607842
www.ncbi.nlm.nih.gov
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Three-dimensional structures of sulfatases.
... provides an explanation for the loss of enzyme function in X-linked ichthyosis. ... Ichthyosis, X-Linked/enzymology. Ichthyosis, X-Linked/genetics. Models, ...
http://www.ncbi.nlm.nih.gov/pubmed/16399355
www.ncbi.nlm.nih.gov
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An Xp22 microdeletion associated with ocular albinism and ichthyosis ...
... of the Nettleship-Falls type (OA1) and X-linked ichthyosis (XI) due to steroid ... Ichthyosis/genetics* Pedigree. Pigment Epithelium of Eye ...
http://www.ncbi.nlm.nih.gov/pubmed/2573275
www.ncbi.nlm.nih.gov
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summary
Steroid sulphatase in man: a non inactivated X-locus with partial gene ...
... STS deficiency and recessive X-linked ichthyosis, and from individuals with ... Ichthyosis/enzymology. Ichthyosis/genetics. Klinefelter Syndrome/enzymology ...
http://www.ncbi.nlm.nih.gov/pubmed/6582028
www.ncbi.nlm.nih.gov
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X-linked icthyosis. A sulphatase deficiency.
... normal at birth, but later developed ichthyosis of the X-linked inherited type. ... patients with proved X-linked inherited ichthyosis vulgaris, arylsulphatase C ...
http://www.ncbi.nlm.nih.gov/pubmed/727794
www.ncbi.nlm.nih.gov
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Sex linkage - Wikipedia, the free encyclopedia
X-Linked mental retardation: Coffin-Lowry syndrome · Fragile X ... Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis ...
http://en.wikipedia.org/wiki/Sex_linkage
en.wikipedia.org
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Pathogenesis of permeability barrier abnormalities in the ichthyoses ...
... barrier abnormalities (and subsequent ichthyosis) in inherited disorders of ... For example, in recessive X-linked ichthyosis (RXLI), cholesterol sulfate (CSO(4) ...
http://www.ncbi.nlm.nih.gov/pubmed/18245815
www.ncbi.nlm.nih.gov
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Hypohidrotic ectodermal dysplasia - Wikipedia, the free encyclopedia
X-linked ichthyosis. Epidermolysis bullosa ... Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis ...
http://en.wikipedia.org/wiki/Hypohidrotic_ectodermal_dysplasia
en.wikipedia.org
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Focal dermal hypoplasia - Wikipedia, the free encyclopedia
... Netherton syndrome - X-linked ichthyosis - Zunich-Kaye syndrome ... Dyskeratosis congenita · Hypohidrotic ectodermal dysplasia (EDA) · X-linked ichthyosis ...
http://en.wikipedia.org/wiki/Focal_dermal_hypoplasia
en.wikipedia.org
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Ocular Albinism, X-Linked
X-linked inheritance is documented by either a ... An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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