PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus

Prolyl endopeptidase-like (PREPL) deficiency (MIM 616224) is a very rare congenital disorder characterized by neonatal hypotonia and feeding difficulties, ptosis, neuromuscular symptoms, cognitive impairments, growth hormone deficiency, short stature, and hypergonadotropic hypogonadism. This syndrom...

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Udgivet i:Front Genet
Main Authors: Yang, Qi, Hua, Rong, Qian, Jiale, Yi, Shang, Shen, Fei, Zhang, Qiang, Li, Mengting, Yi, Sheng, Luo, Jingsi, Fan, Xin
Format: Artigo
Sprog:Inglês
Udgivet: Frontiers Media S.A. 2020
Fag:
Genetics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7078161/
https://ncbi.nlm.nih.gov/pubmed/32218803
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00198
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