Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome
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DOI: 10.1097/jcma.0000000000000011
Abstract: Background: Bardet-Biedl Syndrome (BBS) is a genetically heterogeneous autosomal recessive disorder with a wide spectrum of clinical features. To date, mutations in 21 different genes (BBS1-21) have been identified as causing isolated or complex BBS… read more here.
Keywords: bbs7; chinese miao; bardet biedl; biedl syndrome ... See more keywords