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spondyloepiphyseal dysplasia - bone disorder causing dwarfism
Definition for spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia congenita is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision and hearing.
more
Spondyloepiphyseal dysplasia congenita is a rare disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision and hearing. The name of the condition indicates that it affects the bones of the spine (spondylo-) and the ends of bones (epiphyses), and that it is present from birth (congenital). The signs and symptoms of spondyloepiphyseal dysplasia congenita are similar to, but milder than, the related skeletal disorders achondrogenesis type 2 and hypochondrogenesis. Spondyloepiphyseal dysplasia congenita is a subtype of collagenopathy, types II and XI.
less
some common symptoms
abnormal gait
short trunk
weakness
some related diagnoses
1 - 7 of
121
diagnoses
limb girdle muscular dystrophies
Hartnup disease
hereditary hemorrhagic telangiectasia
hereditary ataxias, adult type
Friedreich's ataxia
urea cycle disorders
facioscapulohumeral dystrophy
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do i have 'spondyloepiphyseal dysplasia'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'spondyloepiphyseal dysplasia'
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diagnostic tests
24 hour urinary acid mucopolysaccharides
spondyloepiphyseal dysplasia and 24 hour urinary acid mucopolysaccharides
Amniocentesis
spondyloepiphyseal dysplasia and Amniocentesis
Skeletal radiograph survey
spondyloepiphyseal dysplasia and Skeletal radiograph survey
Hearing test
standard technique of representing hearing loss
spondyloepiphyseal dysplasia and Hearing test
CT extremities
spondyloepiphyseal dysplasia and CT extremities
Magnetic Resonance Imaging (MRI) Skeletal
spondyloepiphyseal dysplasia and Magnetic Resonance Imaging (MRI) Skeletal
Hip arthrography
spondyloepiphyseal dysplasia and Hip arthrography
vision tests
spondyloepiphyseal dysplasia and vision tests
CT scan
spondyloepiphyseal dysplasia and CT scan
Magnetic Resonance Imaging (MRI)
spondyloepiphyseal dysplasia and Magnetic Resonance Imaging (MRI)
Comprehensive eye exam
spondyloepiphyseal dysplasia and Comprehensive eye exam
Urine spot tests for mucopolysaccharides (GAG)
spondyloepiphyseal dysplasia and Urine spot tests for mucopolysaccharides (GAG)
speech reception threshold (SRT)
spondyloepiphyseal dysplasia and speech reception threshold (SRT)
urine keratan sulfate
spondyloepiphyseal dysplasia and urine keratan sulfate
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therapeutic procedures for 'spondyloepiphyseal dysplasia'?
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 spondyloepiphyseal dysplasia:
therapeutic procedure search results for 'spondyloepiphyseal dysplasia'
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Orthopedic surgical care
spondyloepiphyseal dysplasia and Orthopedic surgical care
Osteotomy
spondyloepiphyseal dysplasia and Osteotomy
medications search results for 'spondyloepiphyseal dysplasia'
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web search results for spondyloepiphyseal dysplasia
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- spondyloepiphyseal dysplasia
Spondyloepiphyseal dysplasia congenita - Wikipedia, the free encyclopedia
Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) ... People with spondyloepiphyseal dysplasia are short-statured from birth, with a ...
http://en.wikipedia.org/wiki/Spondyloepiphyseal_dysplasia_congenita
en.wikipedia.org
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summary
Spondyloepiphyseal dysplasia congenita - Genetics Home Reference
Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth ... People with spondyloepiphyseal dysplasia congenita have short stature from birth, ...
http://ghr.nlm.nih.gov/condition=spondyloepiphysealdysplasiacongenita
ghr.nlm.nih.gov
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summary
Spondyloepiphyseal Dysplasia Tarda - Yahoo! Health
Important It is possible that the main title of the report Spondyloepiphyseal Dysplasia Tarda is not the name you expected. Please check the synonyms listing to ...
http://health.yahoo.com/musculoskeletal-overview/spondyloepi...
health.yahoo.com
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summary
X-linked spondyloepiphyseal dysplasia tarda - Genetics Home Reference
Individuals with X-linked spondyloepiphyseal dysplasia tarda have a short trunk ... Gene Review: Spondyloepiphyseal Dysplasia Tarda, X-Linked ...
http://www.ghr.nlm.nih.gov/condition=xlinkedspondyloepiphysealdysplasiatarda
www.ghr.nlm.nih.gov
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X-Linked Spondyloepiphyseal Dysplasia Tarda -- GeneReviews -- NCBI ...
In adults, X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is ... Spondyloepiphyseal dysplasia is a general term that describes the radiographic ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sedt
www.ncbi.nlm.nih.gov
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Spondyloepiphyseal dysplasia congenita - References - Genetics Home ...
... Home Reference condition summary on spondyloepiphyseal dysplasia congenita. ... Spondyloepiphyseal dysplasia congenita associated with conductive hearing loss. ...
http://ghr.nlm.nih.gov/condition=spondyloepiphysealdysplasia...
ghr.nlm.nih.gov
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summary
X-linked spondyloepiphyseal dysplasia tarda - References - Genetics ...
... analysis in X-linked spondyloepiphyseal dysplasia tarda. J Clin ... Savarirayan R, Thompson E, Gécz J. Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400) ...
http://www.ghr.nlm.nih.gov/condition=xlinkedspondyloepiphyse...
www.ghr.nlm.nih.gov
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Spondyloepiphyseal Dysplasia: eMedicine Orthopedic Surgery
Overview: Spondyloepiphyseal dysplasia (SED) is a descriptive term for a group of disorders with primary involvement of the vertebrae and ...
http://www.emedicine.com/orthoped/byname/spondyloepiphyseal-dysplasia.htm
www.emedicine.com
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Spondyloepiphyseal dysplasia congenita - Related Gene(s) - Genetics ...
Genetic Conditions > spondyloepiphyseal dysplasia congenita > Related Gene(s) ... Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/condition=spondyloepiphysealdysplasia...
ghr.nlm.nih.gov
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The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.
The X-linked form of spondyloepiphyseal dysplasia tarda (SEDL), a radiologically ... skeletal dysplasia affecting the vertebrae and epiphyses, is caused by mutations ...
http://www.ncbi.nlm.nih.gov/pubmed/11349230
www.ncbi.nlm.nih.gov
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Spondyloepiphyseal dysplasia congenita syndrome: anesthetic implications.
1: Anesth Analg. 1996 Aug;83(2):433-4. Spondyloepiphyseal dysplasia congenita syndrome: anesthetic implications. Mogera C, Muralidhar V. ...
http://www.ncbi.nlm.nih.gov/pubmed/8694336
www.ncbi.nlm.nih.gov
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summary
Spondyloepiphyseal dysplasia congenita - MedlinePlus - Health ...
Genetic Conditions > spondyloepiphyseal dysplasia congenita > MedlinePlus ... Home Reference condition summary on spondyloepiphyseal dysplasia congenita. ...
http://ghr.nlm.nih.gov/condition=spondyloepiphysealdysplasia...
ghr.nlm.nih.gov
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summary
Spondyloepiphyseal dysplasia congenita - Patient support - For patients ...
Genetic Conditions > spondyloepiphyseal dysplasia congenita > ... Home Reference condition summary on spondyloepiphyseal dysplasia congenita. ...
http://ghr.nlm.nih.gov/condition=spondyloepiphysealdysplasia...
ghr.nlm.nih.gov
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summary
X-linked spondyloepiphyseal dysplasia tarda - Educational resources ...
Genetic Conditions > X-linked spondyloepiphyseal dysplasia tarda > ... Cedars-Sinai Health System: International Skeletal Dysplasia Registry ...
http://ghr.nlm.nih.gov/condition=xlinkedspondyloepiphysealdy...
ghr.nlm.nih.gov
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summary
X-linked spondyloepiphyseal dysplasia tarda - MedlinePlus - Health ...
Genetic Conditions > X-linked spondyloepiphyseal dysplasia tarda > ... Home Reference condition summary on X-linked spondyloepiphyseal dysplasia tarda. ...
http://ghr.nlm.nih.gov/condition=xlinkedspondyloepiphysealdy...
ghr.nlm.nih.gov
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Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family ...
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an ... genomic DNA from a patient with spondyloepiphyseal dysplasia and precocious ...
http://www.ncbi.nlm.nih.gov/pubmed/8244341
www.ncbi.nlm.nih.gov
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summary
X-linked spondyloepiphyseal dysplasia tarda - Related Gene(s ...
Genetic Conditions > X-linked spondyloepiphyseal dysplasia tarda > Related Gene(s) ... Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/condition=xlinkedspondyloepiphysealdy...
ghr.nlm.nih.gov
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SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA - Pedbase.org
the gene responsible for Spondyloepiphyseal Dysplasia was identified by Lee et ... Powered by Database of Pediatrics- SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA ...
http://pedbase.org/s/spondyloepiphyseal-dysplasia-congenita/
pedbase.org
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The sedlin gene for spondyloepiphyseal dysplasia tarda escapes ...
... sedlin gene for spondyloepiphyseal dysplasia tarda escapes X-inactivation and ... the sedlin gene cause spondyloepiphyseal dysplasia tarda (SEDT), a rare X-linked ...
http://www.ncbi.nlm.nih.gov/pubmed/11595175
www.ncbi.nlm.nih.gov
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Orphanet: Spondyloepiphyseal dysplasia
The portal for rare diseases and orphan drugs ... Spondyloepiphyseal dysplasia. Orpha number. ORPHA253. Prevalence of rare diseases. Unknown ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=253
www.orpha.net
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Spondyloepiphyseal Dysplasia, Congenital - Yahoo! Health
Important It is possible that the main title of the report Spondyloepiphyseal Dysplasia, Congenital is not the name you expected. Please check the synonyms listing ...
http://health.yahoo.com/children-genetic/spondyloepiphyseal-...
health.yahoo.com
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Talk:Spondyloepiphyseal dysplasia congenita - Wikipedia, the free ...
Talk:Spondyloepiphyseal dysplasia congenita. From Wikipedia, the ... edit · history · watch · refresh To-do list for Spondyloepiphyseal dysplasia congenita: ...
http://en.wikipedia.org/wiki/Talk:Spondyloepiphyseal_dysplasia_congenita
en.wikipedia.org
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Spondyloepimetaphyseal dysplasia - Wikipedia, the free encyclopedia
... to those of spondyloepiphyseal dysplasia congenita, a related ... syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia congenita (see also C2/11) ...
http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia,_Strudwick_type
en.wikipedia.org
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MedlinePlus: Connective Tissue Disorders
Genetics Home Reference: Czech dysplasia(National Library of Medicine) ... Genetics Home Reference: Spondyloepiphyseal dysplasia congenita(National Library ...
http://www.nlm.nih.gov/medlineplus/connectivetissuedisorders.html
www.nlm.nih.gov
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Diastrophic dysplasia - Wikipedia, the free encyclopedia
Metaphyseal dysplasia · Jansen's metaphyseal chondrodysplasia · Schmid ... Spondyloepiphyseal dysplasia congenita · Multiple epiphyseal dysplasia ...
http://en.wikipedia.org/wiki/Diastrophic_dysplasia
en.wikipedia.org
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Osteochondrodysplasias: Bone and Connective Tissue Disorders in ...
Chondroectodermal dysplasia (Ellis-van Creveld syndrome) ... Mesomelic dysplasia ... Spondyloepiphyseal dysplasia ...
http://www.merck.com/mmpe/sec19/ch284/ch284k.html
www.merck.com
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aggrecan - NextBio
... RNA serum SNAI1 SOX6 SOX9 Spondyloepiphyseal dysplasia tendon TIMP3 WISP3 ... Spondyloepiphyseal dysplasia (SED) encompasses a heterogeneous group of ...
http://www.nextbio.com/b/home/home.nb?q=aggrecan
www.nextbio.com
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Ear, nose, and throat - Genetics Home Reference
SEDc see spondyloepiphyseal dysplasia congenita ... SPD see spondyloperipheral dysplasia. spondyloepiphyseal dysplasia congenita ...
http://www.ghr.nlm.nih.gov/ghr/conditionsByCategory/show/earnoseandthroat
www.ghr.nlm.nih.gov
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A missense mutation in the mouse Col2a1 gene causes spondyloepiphyseal ...
... discovered and named spondyloepiphyseal dysplasia congenita (gene symbol sedc) ... Two human patients with spondyloepiphyseal dysplasia (SED) congenita have been ...
http://www.ncbi.nlm.nih.gov/pubmed/12968670
www.ncbi.nlm.nih.gov
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Kniest dysplasia - Wikipedia, the free encyclopedia
Kniest dysplasia is an uncommon inherited disorder of bone growth. ... syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia congenita (see also C2/11) ...
http://en.wikipedia.org/wiki/Kniest_dysplasia
en.wikipedia.org
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MedlinePlus: Dwarfism
Includes an overview, answers to frequently asked questions, and more.
http://www.nlm.nih.gov/medlineplus/dwarfism.html
www.nlm.nih.gov
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A single nucleotide deletion of 293delT in SEDL gene causing ...
... in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four ... Spondyloepiphyseal Dysplasia Tarda (SEDT; MIM 313400) is a rare genetically ...
http://www.ncbi.nlm.nih.gov/pubmed/12650905
www.ncbi.nlm.nih.gov
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Fibrous dysplasia of bone - Wikipedia, the free encyclopedia
Fibrous dysplasia (Monostotic, Polyostotic) · Skeletal fluorosis · bone cyst ... Spondyloepiphyseal dysplasia congenita · Multiple epiphyseal dysplasia ...
http://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone
en.wikipedia.org
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Molecular prenatal diagnosis in 2 pregnancies at risk for ...
... diagnosis in 2 pregnancies at risk for spondyloepiphyseal dysplasia congenita. ... BACKGROUND: Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal ...
http://www.ncbi.nlm.nih.gov/pubmed/17920052
www.ncbi.nlm.nih.gov
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Jansen's metaphyseal chondrodysplasia - Wikipedia, the free encyclopedia
Spondyloepiphyseal dysplasia congenita · Multiple epiphyseal dysplasia ... Achondroplasia · Hypochondroplasia · Thanatophoric dysplasia. TGF beta receptors ...
http://en.wikipedia.org/wiki/Jansen's_metaphyseal_chondrodysplasia
en.wikipedia.org
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Mouth and teeth - Genetics Home Reference
Chondroectodermal Dysplasia see Ellis-van Creveld syndrome ... SED congenita see spondyloepiphyseal dysplasia congenita ... spondyloepiphyseal dysplasia congenita ...
http://ghr.nlm.nih.gov/conditionCategory=mouthandteeth
ghr.nlm.nih.gov
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Linkage analysis of two Canadian families segregating for X linked ...
... two Canadian families segregating for X linked spondyloepiphyseal dysplasia. ... X linked spondyloepiphyseal dysplasia (SED) is caused by a growth defect of the ...
http://www.ncbi.nlm.nih.gov/pubmed/8733060
www.ncbi.nlm.nih.gov
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Bone Diseases - Genetics Home Reference
spondyloepiphyseal dysplasia congenita. spondyloperipheral dysplasia. tetra-amelia syndrome ... X-linked spondyloepiphyseal dysplasia tarda ...
http://ghr.nlm.nih.gov/conditionGroup=bonediseases
ghr.nlm.nih.gov
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TRAPPC2 - trafficking protein particle complex 2 - Genetics Home Reference
X-linked spondyloepiphyseal dysplasia tarda - caused by mutations in the TRAPPC2 ... gene have been found to cause X-linked spondyloepiphyseal dysplasia tarda. ...
http://ghr.nlm.nih.gov/gene=trappc2
ghr.nlm.nih.gov
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TRAPPC2 - References - Genetics Home Reference
Mutational analysis in X-linked spondyloepiphyseal dysplasia tarda. J Clin Endocrinol Metab. ... basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum ...
http://ghr.nlm.nih.gov/gene=trappc2/show/References
ghr.nlm.nih.gov
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Campomelic Dysplasia -- GeneReviews -- NCBI Bookshelf
... the differential diagnosis is mainly spondyloepiphyseal dysplasia congenita ... overlap of campomelic dysplasia (CD) with spondyloepiphyseal dysplasia congenita. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=campo-dysp
www.ncbi.nlm.nih.gov
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183900
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=183900
www.ncbi.nlm.nih.gov
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313400
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=313400
www.ncbi.nlm.nih.gov
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Pseudoachondroplasia - Genetics Home Reference
Pseudoachondroplastic dysplasia. Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome ... cell ; chondrocyte ; dysplasia ; gene ; joint ; lordosis ; ...
http://ghr.nlm.nih.gov/condition=pseudoachondroplasia
ghr.nlm.nih.gov
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MedlinePlus: Bone Diseases
Genetics Home Reference: Spondyloepiphyseal dysplasia congenita(National Library ... Reference: X-linked spondyloepiphyseal dysplasia tarda(National Library ...
http://www.nlm.nih.gov/medlineplus/bonediseases.html
www.nlm.nih.gov
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COL2A1 - collagen, type II, alpha 1 - Genetics Home Reference
spondyloepiphyseal dysplasia congenita - caused by mutations in the COL2A1 gene ... alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital) ...
http://ghr.nlm.nih.gov/gene=col2a1
ghr.nlm.nih.gov
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208230
http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=208230
www.ncbi.nlm.nih.gov
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Zinc finger protein 547 (ZNF547)
Human protein-coding gene ZNF547. Represented by 178 ESTs from ... Homo sapiens spondyloepiphyseal dysplasia, late, pseudogene, mRNA (cDNA clone IMAGE:3941447) ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=446620
www.ncbi.nlm.nih.gov
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Eyes and vision - Genetics Home Reference
... see spondyloepimetaphyseal dysplasia, Strudwick type ... SED congenita see spondyloepiphyseal dysplasia congenita ... spondyloepiphyseal dysplasia congenita ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/eyesandvision
ghr.nlm.nih.gov
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Schimke Immunoosseous Dysplasia -- GeneReviews -- NCBI Bookshelf
Spondyloepiphyseal dysplasia (86%). The most commonly observed radiologic ... Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=siod
www.ncbi.nlm.nih.gov
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