A novel UBE2A splice site variant causing intellectual disability type Nascimento

X‐linked intellectual disability type Nascimento (XLID) is a rare disease caused by variants in the ubiquitin‐conjugating enzyme E2A gene (UBE2A). Patients with XLID have similar phenotypes, including speech impairments, severe intellectual disability, hearing loss, wide facies, synophrys, generaliz...

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Detalles Bibliográficos
Autores principales: Yan, Shuyuan, Wang, Yanling, Chen, Ying, Yuan, Hongxia, Kuang, Xiaoni, Hou, Da, Li, Xueyi, Pan, Linglin, Huang, Guangwen, He, Jun, Wang, Tuanmei, Peng, Xiangwen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272217/
https://www.ncbi.nlm.nih.gov/pubmed/35846913
http://dx.doi.org/10.1002/ccr3.5990

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