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A novel splice site mutation in AP1S2 gene for X‐linked mental retardation in a Chinese pedigree and literature review

BACKGROUND: Pettigrew syndrome (PGS) is a rare X‐linked mental retardation that caused by AP1S2 mutation. The pathogenesis of AP1S2 deficiency has remained elusive. The purpose of this study is to give a comprehensive overview of the phenotypic and genetic spectrum of AP1S2 mutations. METHODS: This...

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Detalles Bibliográficos
Autores principales: Huo, Liang, Teng, Ziteng, Wang, Hua, Liu, Xueyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6422709/
https://www.ncbi.nlm.nih.gov/pubmed/30714330
http://dx.doi.org/10.1002/brb3.1221