Identification of ANLN as a new likely pathogenic gene of branchio ‐otic syndrome in a three‐generation Chinese family

ConclusionIn this study, we identified, for the first time, a heterozygous missense variant inANLN (NM_018685.4: c.G1105A; NP_061155.2: p.G369R) that is likely to be a candidate causative gene of BO syndrome in a specific Chinese family.

Source: Molecular Genetics & Genomic Medicine - December 11, 2018 Category: Genetics & Stem Cells Authors: Lisha Deng, Yuanzhen Liu, Wenjun Xia, Jiongjiong Hu, Zhaoxin Ma Tags: ORIGINAL ARTICLE Source Type: research