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

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 of a fem...

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Dades bibliogràfiques
Publicat a:BMC Med Genet
Autors principals: Zhou, Yi-Kun, Yang, Xiao-Chun, Cao, Yang, Su, Heng, Liu, Li, Liang, Zhi, Zheng, Yun
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2018
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6311919/
https://ncbi.nlm.nih.gov/pubmed/30598092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-018-0723-5
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