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

• Autori principali: Yi-Kun Zhou (Autore), Xiao-Chun Yang (Autore), Yang Cao (Autore), Heng Su (Autore), Li Liu (Autore), Zhi Liang (Autore), Yun Zheng (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2018-12-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

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...