Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights

ATR-X syndrome is a rare X-linked congenital disorder caused by hypomorphic mutations in the ATRX gene. A typical phenotype is well defined, with cognitive impairment, characteristic facial dysmorphism, hypotonia, gastrointestinal, skeletal, urogenital, and hematological anomalies as characteristic...

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Detalles Bibliográficos
Autores principales: Vaisfeld, Alessandro, Taormina, Sara, Simonati, Alessandro, Neri, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601810/
https://www.ncbi.nlm.nih.gov/pubmed/36292677
http://dx.doi.org/10.3390/genes13101792

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9601810/
https://www.ncbi.nlm.nih.gov/pubmed/36292677
http://dx.doi.org/10.3390/genes13101792

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