Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family

Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family

Abstract Background Proximal symphalangism (SYM1; OMIM 185800), also called Cushing’s symphalangism, is an infrequent autosomal dominant disease. An SYM1 patient typically features variable fusion of proximal interphalangeal joints in the hands and feet. Methods We recruited a four-generation Chines...

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Bibliographic Details
Main Authors: Yanwei Sha, Ding Ma, Ning Zhang, Xiaoli Wei, Wensheng Liu, Xiong Wang
Format: Article
Language:English
Published: BMC 2019-08-01
Series:BMC Medical Genetics
Subjects:
Proximal symphalangism
Whole genome sequencing
Missense mutation
NOG
Online Access:http://link.springer.com/article/10.1186/s12881-019-0864-1

Internet

http://link.springer.com/article/10.1186/s12881-019-0864-1

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