Browsing Centro de Biología Integrativa (CBI) by Subject "Genetics & Heredity"

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Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly

Woehlbier, Ute [Univ Mayor, Ctr Integrat Biol, Fac Sci, Santiago, Chile]; Bolukbasi, Esra Yildiz; Mumtaz, Sara; Afzal, Muhammad; Malik, Sajid; Tolun, Aslihan (BMJ PUBLISHING GROUP, 2018)

Background Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. ...