A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disabilityResearch in context
Background: Dominant deafness-onychodystrophy (DDOD) syndrome is a rare disorder mainly characterized by severe deafness, onychodystrophy and brachydactyly. We previously identified c.1516C > T (p.Arg506X) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. C...
Main Authors: | Weihao Zhao, Xue Gao, Shiwei Qiu, Bo Gao, Song Gao, Xin Zhang, Dongyang Kang, Weiju Han, Pu Dai, Yongyi Yuan |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2019-07-01
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Series: | EBioMedicine |
Online Access: | http://www.sciencedirect.com/science/article/pii/S2352396419304153 |
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