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Results 1 - 10 of 10 for "Bardet-Biedl" syndrome 13
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  1. Bardet-Biedl syndrome 
    ... Bedouin population of Kuwait, affecting about 1 in 13,500 newborns. Bardet-Biedl syndrome can result from mutations in at least 14 ... on PubMed Katsanis N. The oligogenic properties of Bardet-Biedl syndrome. Hum Mol Genet. 2004 Apr 1;13 Spec No 1:R65-71. doi: 10.1093/ ...
    https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome - Genetics
  2. Bardet-Biedl Syndrome (Foundation Fighting Blindness)  
    What is Bardet Biedl Syndrome? Learn about the signs and symptoms of the complex disorder Bardet Biedl Syndrome, as well as how to live with the ...
    https://www.fightingblindness.org/diseases/bardet-biedl-syndrome-bbs - External Health Links
  3. MKKS gene 
    ... variants in the MKKS gene can also cause Bardet-Biedl syndrome, a condition that is related to McKusick-Kaufman ... This Health Condition MedlinePlus Genetics provides information about Bardet-Biedl syndrome More About This Health Condition BBS6 HMCS KMS ...
    https://medlineplus.gov/genetics/gene/mkks - Genetics
  4. BBS1 gene 
    ... BBS1 gene have been identified in people with Bardet-Biedl syndrome. Mutations in this gene are the most common cause of Bardet-Biedl syndrome, accounting for about one-quarter of all cases. ...
    https://medlineplus.gov/genetics/gene/bbs1 - Genetics
  5. McKusick-Kaufman syndrome 
    ... overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. However, Bardet-Biedl syndrome has several features that are not typically seen ...
    https://medlineplus.gov/genetics/condition/mckusick-kaufman-syndrome - Genetics
  6. CEP290 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Bardet-Biedl syndrome More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/cep290 - Genetics
  7. Retinitis Pigmentosa (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Usher Syndrome/Learn More ... Usher Syndrome ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
    https://www.fightingblindness.org/diseases/retinitis-pigmentosa - External Health Links
  8. Choroideremia (Foundation Fighting Blindness)  
    Retinal Disorders/Specifics ... Retinal Disorders ... Eye Diseases/Specifics ... Eye Diseases ... Foundation Fighting Blindness ... What is Choroideremia? Learn about the signs ...
    https://www.fightingblindness.org/diseases/choroideremia - External Health Links
  9. Birth Defects (National Library of Medicine)  
    What are birth defects? A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the ...
    https://medlineplus.gov/birthdefects.html - Health Topics
  10. NPHP1 gene 
    ... at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 1;94( ...
    https://medlineplus.gov/genetics/gene/nphp1 - Genetics