Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients

BACKGROUND: The study aimed to investigate the clinical and genetic features of Rahman syndrome caused by HIST1H1E gene mutations. METHODS: We retrospectively analyzed the clinical information and genetic testing results of a Rahman syndrome family in an outpatient clinic in August 2020 and summariz...

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Detalles Bibliográficos
Autores principales: Zhao, Jianbo, Lyu, Guizhen, Ding, Changhong, Wang, Xiaohui, Li, Jiuwei, Zhang, Weihua, Yang, Xinying, Zhang, Victor Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8922969/
https://www.ncbi.nlm.nih.gov/pubmed/35156329
http://dx.doi.org/10.1002/mgg3.1825

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