X‐linked mental retardation‐hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene

BACKGROUND: X‐linked mental retardation‐hypotonic facies syndrome‐1 (MRXFH1), caused by a mutation in the ATRX gene, is a rare syndromic form of X‐linked mental retardation (XLMR) that is mainly characterized by severe intellectual disability, dysmorphic facies, and skewed X‐inactivation pattern in...

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Detalles Bibliográficos
Autores principales: Shakarami, Fatemeh, Jahani, Mehdi, Nouri, Zahra, Tabatabaiefar, Mohammad Amin
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/PMC9544208/
https://www.ncbi.nlm.nih.gov/pubmed/35962714
http://dx.doi.org/10.1002/mgg3.2034

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9544208/
https://www.ncbi.nlm.nih.gov/pubmed/35962714
http://dx.doi.org/10.1002/mgg3.2034

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