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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| 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 |