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"Bardet-Biedl" syndrome 13
Did you mean "barrett-Biedl" syndrome 13?
- ... 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/ ...
- ... 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 ...
- ... 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. ...
- ... overlap significantly with those of another genetic disorder, Bardet-Biedl syndrome. However, Bardet-Biedl syndrome has several features that are not typically seen ...
- ... This Health Condition MedlinePlus Genetics provides information about Bardet-Biedl syndrome More About This Health Condition MedlinePlus Genetics provides ...
- Retinitis Pigmentosa (Foundation Fighting Blindness)Usher Syndrome/Learn More ... Usher Syndrome ... Retinal Disorders/Specifics ... Retinal Disorders ... Foundation Fighting Blindness ... What is Retinitis Pigmentosa? Learn about ...
- 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 ...
- ... at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 1;94( ...