A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom

A homozygous G insertion in MPLKIP leads to TTDN1 with the hypergonadotropic hypogonadism symptom

Abstract Background Trichothiodystrophy nonphotosensitive 1 (TTDN1) is a disease with mental retardation, brittle hair. Some cases of the diseases are caused by mutations of the MPLKIP gene. Methods We carefully identified the clinic characteristics, the sulfur level and pattern of the hair shafts o...

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Bibliographic Details
Main Authors: Yi-Kun Zhou, Xiao-Chun Yang, Yang Cao, Heng Su, Li Liu, Zhi Liang, Yun Zheng
Format: Article
Language:English
Published: BMC 2018-12-01
Series:BMC Medical Genetics
Subjects:
Trichothiodystrophy nonphotosensitive 1 (TTDN1)
Hypergonadotropic hypogonadism
MPLKIP
Mutation
Small Indel
Online Access:http://link.springer.com/article/10.1186/s12881-018-0723-5

Internet

http://link.springer.com/article/10.1186/s12881-018-0723-5

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