A novel compound heterozygous mutation in TTC8 identified in a Japanese patient
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DOI: 10.1038/s41439-019-0045-y
Abstract: Bardet–Biedl syndrome (BBS), characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, hypogonadism, renal abnormalities, and mental retardation, is a rare autosomal recessive disorder. To date, 21 causative genes have been reported. Here we describe a… read more here.
Keywords: mutation ttc8; novel compound; compound heterozygous; heterozygous mutation ... See more keywords