Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus

BACKGROUND: A large deletion in Xp22.3 can result in contiguous gene syndromes, including X-linked ichthyosis (XLI) and Kallmann syndrome (KS), presenting with short stature, chondrodysplasia punctata, intellectual disability, and strabismus. XLI and KS are caused by the deletion of STS and ANOS1, r...

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Опубликовано в: :Front Genet
Главные авторы: Ma, Wanlu, Mao, Jiangfeng, Wang, Xi, Duan, Lian, Song, Yuwen, Lian, Xiaolan, Zheng, Junjie, Liu, Zhaoxiang, Nie, Min, Wu, Xueyan
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2020
Предметы:
Genetics
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7327112/
https://ncbi.nlm.nih.gov/pubmed/32670353
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00596
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