Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report

Rahman syndrome is a rare congenital anomaly syndrome recently described, which results from pathogenic variants in the HIST1H1E gene. The condition is characterized by variable somatic overgrowth, macrocephaly, distinctive facial features, intellectual disability, and behavioral problems. This repo...

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Detalles Bibliográficos
Autores principales: Indugula, Subba Rao, Ayala, Sofia Saenz, Vetrini, Francesco, Belonis, Alyce, Zhang, Wenying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8822259/
https://www.ncbi.nlm.nih.gov/pubmed/35154720
http://dx.doi.org/10.1002/ccr3.5370

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8822259/
https://www.ncbi.nlm.nih.gov/pubmed/35154720
http://dx.doi.org/10.1002/ccr3.5370

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