Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature

AIM AND OBJECTIVE: Intellectual disability (ID) is a heterogeneous condition affecting brain development, function, and/or structure. The X-linked mode of inheritance of ID (X-linked intellectual disability; XLID) has a prevalence of 1 out of 600 to 1000 males. In the last decades, exome sequencing...

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Autores principales: Mir, Atefeh, Song, Yongjun, Lee, Hane, Khanahmad, Hossein, Khorram, Erfan, Nasiri, Jafar, Tabatabaiefar, Mohammad Amin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10566173/
https://www.ncbi.nlm.nih.gov/pubmed/37821930
http://dx.doi.org/10.1186/s12920-023-01680-y

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