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bardet-biedl syndrome - genetic disorder with obesity and hypogonadism
Definition for Bardet-Biedl Syndrome
The Bardet-Biedl syndrome is a genetic disorder characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in some cases.
some common symptoms
absent pubic and axillary hair
deformity of nose
delayed puberty
short stature
some related diagnoses
1 - 7 of
14
diagnoses
Turner's Syndrome
hypothyroidism
drugs and toxins
malnutrition
cyanotic heart disease
malabsorption
celiac disease
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do i have 'Bardet-Biedl Syndrome'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'bardet-biedl syndrome'
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diagnostic tests
Molecular Genetic Studies
Bardet-Biedl Syndrome and Molecular Genetic Studies
BUN
Bardet-Biedl Syndrome and BUN
Serum Creatinine
Bardet-Biedl Syndrome and Serum Creatinine
Ultrasonography kidneys ureter bladder
Bardet-Biedl Syndrome and Ultrasonography kidneys ureter bladder
Urinalysis
Examination of urine to detect disease
Bardet-Biedl Syndrome and Urinalysis
serum electrolytes
Bardet-Biedl Syndrome and serum electrolytes
CT kidneys
Bardet-Biedl Syndrome and CT kidneys
CT scan
Bardet-Biedl Syndrome and CT scan
Comprehensive eye exam
Bardet-Biedl Syndrome and Comprehensive eye exam
Developmental testing
Bardet-Biedl Syndrome and Developmental testing
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therapeutic procedures for 'Bardet-Biedl Syndrome'?
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 Bardet-Biedl Syndrome:
therapeutic procedure search results for 'bardet-biedl syndrome'
rankings are computer generated. please consult your health care provider.
medications search results for 'bardet-biedl syndrome'
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insulin
Bardet-Biedl Syndrome and insulin
web search results for bardet-biedl syndrome
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1 - 50
- Bardet-Biedl Syndrome
Bardet-Biedl syndrome - Wikipedia, the free encyclopedia
The Bardet-Biedl syndrome is a ciliopathic human genetic disorder that produces ... Laurence-Moon-Biedl-Bardet syndrome are no longer considered as valid terms in ...
http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome
en.wikipedia.org
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summary
Bardet-Biedl syndrome 4 (BBS4)
Homo sapiens Bardet-Biedl syndrome 4 splice variant 1 (BBS4) mRNA, complete cds, ... Homo sapiens Bardet-Biedl syndrome 4, mRNA (cDNA clone IMAGE:3659371) ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&MAXEST=999999&CID=208681
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 1 (BBS1)
Homo sapiens Bardet-Biedl syndrome 1, mRNA (cDNA clone MGC: ... Homo sapiens cDNA FLJ54009 complete cds, highly similar to Bardet-Biedl syndrome 1 protein ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&MAXEST=999999&CID=502915
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 7 (Bbs7)
Norway rat protein-coding gene Bbs7. Represented by 19 ESTs from 15 cDNA libraries. ... Rattus norvegicus Bardet-Biedl syndrome 7, mRNA (cDNA clone MGC:94101 IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=28442
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl Syndrome -- GeneReviews -- NCBI Bookshelf
Bardet-Biedl syndrome (BBS) is characterized by cone-rod dystrophy, truncal ... Bardet-Biedl syndrome is inherited in an autosomal recessive manner. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=bbs
www.ncbi.nlm.nih.gov
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summary
[Bardet-Biedl syndrome]
Bardet-Biedl syndrome (BBS) is a ciliopathy causing multivisceral abnormalities. ... Bardet-Biedl Syndrome/pathology* Diagnosis, Differential. Genetic ...
http://www.ncbi.nlm.nih.gov/pubmed/19019343?dopt=Abstract
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 2 (bbs2)
Zebrafish protein-coding gene bbs2. Represented by 15 ESTs ... Danio rerio Bardet-Biedl syndrome 2, mRNA (cDNA clone MGC:73041 IMAGE:4786691), complete cds ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Dr&CID=1599
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 5 (BBS5)
Homo sapiens Bardet-Biedl syndrome protein 5 isoform 2 (BBS5) mRNA, complete cds ... FLJ60989 complete cds, highly similar to Bardet-Biedl syndrome 5 protein ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=233398
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 12 (BBS12)
Human protein-coding gene BBS12. Represented by 115 ESTs from 68 cDNA libraries. ... Homo sapiens Bardet-Biedl syndrome 12, mRNA (cDNA clone IMAGE:4327935), with ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=400698
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 7 (BBS7)
Human protein-coding gene BBS7. Represented by 139 ESTs from ... Homo sapiens Bardet-Biedl syndrome 7, mRNA (cDNA clone MGC:45066 IMAGE:5240398), complete cds ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=591694
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 9 (BBS9)
Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA ... Homo sapiens Bardet-Biedl syndrome 9, mRNA (cDNA clone IMAGE:5519851), complete cds ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&MAXEST=999999&CID=372360
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 10 (BBS10)
Human protein-coding gene BBS10. Represented by 120 ESTs from 63 cDNA libraries. ... Homo sapiens Bardet-Biedl syndrome 10, mRNA (cDNA clone IMAGE:3919095), complete ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&MAXEST=999999&CID=96322
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 5 (human) (Bbs5)
PREDICTED: similar to Bardet-Biedl syndrome 5 isoform 3. C. lupus ... Mus musculus Bardet-Biedl syndrome 5 (human), mRNA (cDNA clone MGC:74138 IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=252136
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 2 (human) (Bbs2)
Mouse protein-coding gene Bbs2. Represented by 71 ESTs from 47 cDNA libraries. ... Mus musculus Bardet-Biedl syndrome 2 (human), mRNA (cDNA clone MGC:67844 IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=292107
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl Syndrome -- GeneReviews -- NCBI Bookshelf
Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Bardet-Biedl Syndrome. Table 10. BBS7 Pathologic Allelic Variants ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl Syndrome -- GeneReviews -- NCBI Bookshelf
Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Bardet-Biedl Syndrome. Table 3. BBS1 Pathologic Allelic Variants ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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summary
MKKS - McKusick-Kaufman syndrome - Genetics Home Reference
More than 20 MKKS mutations have been found to cause Bardet-Biedl syndrome. ... MKKS protein leads to the characteristic features of Bardet-Biedl syndrome. ...
http://ghr.nlm.nih.gov/gene=mkks
ghr.nlm.nih.gov
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summary
Bardet-Biedl syndrome 2 (BBS2)
... sapiens mRNA for Bardet-Biedl syndrome 2 protein variant ... Homo sapiens Bardet-Biedl syndrome 2, mRNA (cDNA clone MGC:20703 IMAGE:4653315), complete cds ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=333738
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 1 (human) (Bbs1)
Mouse protein-coding gene Bbs1. Represented by 93 ESTs from 57 cDNA ... Mus musculus Bardet-Biedl syndrome 1 homolog (human), mRNA (cDNA clone IMAGE:30619127) ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=23636
www.ncbi.nlm.nih.gov
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summary
National Library of Medicine
A summary of Bardet-Biedl syndrome and a list of major features.
http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome048.html
www.nlm.nih.gov
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summary
Bardet-Biedl syndrome 7 (human) (Bbs7)
Mouse protein-coding gene Bbs7. Represented by 127 ESTs from 57 cDNA libraries. ... Mus musculus Bardet-Biedl syndrome 7 (human), mRNA (cDNA clone MGC:27874 IMAGE: ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=286187
www.ncbi.nlm.nih.gov
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summary
Alström syndrome - Wikipedia, the free encyclopedia
Alstrom syndrome is sometimes confused with Bardet-Biedl syndrome, which has similar symptoms. Bardet-Biedl syndrome tends to have later onset in its symptoms. ...
http://en.wikipedia.org/wiki/Alstrom_syndrome
en.wikipedia.org
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summary
Bardet-Biedl syndrome 2 homolog (human) (Bbs2)
Norway rat protein-coding gene Bbs2. Represented by 38 ESTs from 31 cDNA libraries. ... Rattus norvegicus Bardet-Biedl syndrome 2 homolog (human) (Bbs2), mRNA. P ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=15987
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl Syndrome -- GeneReviews -- NCBI Bookshelf
Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Bardet-Biedl Syndrome. Table 7. BBS4 Pathologic Allelic Variants ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl Syndrome -- GeneReviews -- NCBI Bookshelf
Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Bardet-Biedl Syndrome. Table 9. MKKS/BBS6 Pathologic Allelic Variants ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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summary
Bardet Biedl Syndrome - Yahoo! Health
Important It is possible that the main title of the report Bardet Biedl Syndrome is not the name you expected. Please check the synonyms listing to find the ...
http://health.yahoo.com/vision-resources/bardet-biedl-syndro...
health.yahoo.com
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summary
Mutations in MKKS cause Bardet-Biedl syndrome.
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder with locus heterogeneity. ... Bardet-Biedl Syndrome/diagnosis. Bardet-Biedl Syndrome/genetics ...
http://www.ncbi.nlm.nih.gov/pubmed/10973238
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 4 (human) (Bbs4)
bardet biedl syndrome 4 protein. C. reinhardtii. 58.7. 397. GENE ... Mus musculus Bardet-Biedl syndrome 4 (human), mRNA (cDNA clone IMAGE:6413148), partial cds ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=200714
www.ncbi.nlm.nih.gov
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summary
McKusick-Kaufman syndrome - Genetics Home Reference
Bardet-Biedl syndrome has several features that are not seen in McKusick-Kaufman ... been diagnosed with the disorder were later found to have Bardet-Biedl syndrome. ...
http://ghr.nlm.nih.gov/condition=mckusickkaufmansyndrome
ghr.nlm.nih.gov
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summary
Bardet-Biedl syndrome 9 (human) (Bbs9)
Mouse protein-coding gene Bbs9. Represented by 142 ESTs from 69 ... Mus musculus Bardet-Biedl syndrome 9 (human), mRNA (cDNA clone IMAGE:6468740), complete cds ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=176725
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 12 (human) (Bbs12)
Mouse protein-coding gene Bbs12. Represented by 22 ESTs from 9 cDNA libraries. ... Mus musculus Bardet-Biedl syndrome 12 (human), mRNA (cDNA clone IMAGE:30540467) PA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=32171
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 5 (human) (Bbs5)
BBS (Bardet-Biedl Syndrome) protein family member (bbs-5) C. elegans. 48.1 ... Rattus norvegicus Bardet-Biedl syndrome 5 (human), mRNA (cDNA clone MGC:189245 ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=45505
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl Syndrome -- GeneReviews -- NCBI Bookshelf
Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Bardet-Biedl Syndrome. Table 8. MKKS/BBS6 Normal Allelic Variants ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl Syndrome -- GeneReviews -- NCBI Bookshelf
Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Bardet-Biedl Syndrome. Table 4. BBS2 Normal Allelic Variants ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome: beyond the cilium.
Bardet-Biedl syndrome: beyond the cilium. Tobin JL, Beales PL. ... The Bardet-Biedl syndrome (BBS) is a significant genetic cause of chronic and ...
http://www.ncbi.nlm.nih.gov/pubmed/17357787
www.ncbi.nlm.nih.gov
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summary
Laurence-Moon syndrome - Wikipedia, the free encyclopedia
... and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year ... Laurence-Moon-Bardet-Biedl Syndrome. Medical notes and references. v ? d ? e ...
http://en.wikipedia.org/wiki/Laurence_Moon_syndrome
en.wikipedia.org
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BBS2(BBS) - NextBio
BBS: This gene encodes a protein of unknown function. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 2. Bardet-Biedl syndrome ...
http://www.nextbio.com/b/home/home.nb?q=BBS
www.nextbio.com
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summary
Bardet-Biedl syndrome 1 homolog (human) (Bbs1)
Norway rat protein-coding gene Bbs1. Represented by 40 ESTs from 28 cDNA libraries. ... Rattus norvegicus Bardet-Biedl syndrome 1 homolog (human) (Bbs1), mRNA. P ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=12497&log$=unigeneTable
www.ncbi.nlm.nih.gov
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summary
Möbius syndrome - Wikipedia, the free encyclopedia
Möbius syndrome (also spelled Moebius) is an extremely rare congenital ... Laurence-Moon-Bardet-Biedl. Bardet-Biedl syndrome · Laurence-Moon syndrome. Combined/other, ...
http://en.wikipedia.org/wiki/M%C3%B6bius_syndrome
en.wikipedia.org
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summary
Bardet-Biedl Syndrome -- GeneReviews -- NCBI Bookshelf
Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Bardet-Biedl Syndrome. Table 6. BBS4 Normal Allelic Variants ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl Syndrome -- GeneReviews -- NCBI Bookshelf
Search for. Within This book All books PubMed. Bookshelf " GeneReviews " Bardet-Biedl Syndrome. Table 5. BBS2 Pathologic Allelic Variants ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part...
www.ncbi.nlm.nih.gov
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summary
New criteria for improved diagnosis of Bardet-Biedl syndrome: results ...
... for improved diagnosis of Bardet-Biedl syndrome: results of a population ... Bardet-Biedl syndrome (BBS) is an autosomal recessive condition characterised by ...
http://www.ncbi.nlm.nih.gov/pubmed/10874630
www.ncbi.nlm.nih.gov
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summary
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and ...
Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation ... Bardet-Biedl syndrome is an autosomal recessive disorder characterized by mental ...
http://www.ncbi.nlm.nih.gov/pubmed/7987310
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome 4 homolog (human) (Bbs4)
bardet biedl syndrome 4 protein. C. reinhardtii. 54.7. 397. GENE EXPRESSION ... Rattus norvegicus Bardet-Biedl syndrome 4 homolog (human) (Bbs4), mRNA. PA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Rn&CID=25002
www.ncbi.nlm.nih.gov
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summary
Fountain syndrome - Wikipedia, the free encyclopedia
Beckwith-Wiedemann syndrome · Sotos syndrome · Weaver syndrome. Laurence-Moon-Bardet-Biedl. Bardet-Biedl syndrome · Laurence-Moon syndrome. Combined/other, ...
http://en.wikipedia.org/wiki/Fountain_syndrome
en.wikipedia.org
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summary
Bardet-Biedl syndrome 10 (human) (Bbs10)
Mouse protein-coding gene Bbs10. Represented by 17 ESTs from ... PREDICTED: Mus musculus Bardet-Biedl syndrome 10 (human), transcript variant 1 (Bbs10), mRNA ...
http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=45256
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome: a case report.
... J. 2008 Jan 15;14(1):9. Bardet-Biedl syndrome: a case report. Karaman A. ... Bardet-Biedl syndrome (BBS) is a genetically heterogeneous autosomal recessive ...
http://www.ncbi.nlm.nih.gov/pubmed/18319026
www.ncbi.nlm.nih.gov
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summary
Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.
... autosomal recessive disorder Bardet-Biedl syndrome is characterised by retinal ... genes responsible for Bardet-Biedl syndrome may influence growth ...
http://www.ncbi.nlm.nih.gov/pubmed/9039982
www.ncbi.nlm.nih.gov
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summary
Dubowitz syndrome - Wikipedia, the free encyclopedia
Dubowitz syndrome is a rare genetic disorder characterized by ... Laurence-Moon-Bardet-Biedl. Bardet-Biedl syndrome · Laurence-Moon syndrome. Combined/other, ...
http://en.wikipedia.org/wiki/Dubowitz_syndrome
en.wikipedia.org
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summary
Bardet-Biedl syndrome: an emerging pathomechanism of intracellular ...
Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport. ... been made in understanding the genetic and molecular aetiology of Bardet-Biedl ...
http://www.ncbi.nlm.nih.gov/pubmed/16909204
www.ncbi.nlm.nih.gov
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