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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Detalles Bibliográficos
Autores principales: Yang, Qi, Hua, Rong, Qian, Jiale, Yi, Shang, Shen, Fei, Zhang, Qiang, Li, Mengting, Yi, Sheng, Luo, Jingsi, Fan, Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078161/
https://www.ncbi.nlm.nih.gov/pubmed/32218803
http://dx.doi.org/10.3389/fgene.2020.00198

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7078161/
https://www.ncbi.nlm.nih.gov/pubmed/32218803
http://dx.doi.org/10.3389/fgene.2020.00198

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