Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review

BACKGROUND: Arboleda-Tham syndrome (ARTHS), caused by a pathogenic variant of KAT6A, is an autosomal dominant inherited genetic disorder characterized by various degrees of developmental delay, dysmorphic facial appearance, cardiac anomalies, and gastrointestinal problems. CASE PRESENTATION: A baby...

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Detalles Bibliográficos
Autores principales: Bae, Soyoung, Yang, Aram, Kim, Jinsup, Lee, Hyun Ju, Park, Hyun Kyung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686292/
https://www.ncbi.nlm.nih.gov/pubmed/34930245
http://dx.doi.org/10.1186/s12920-021-01148-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686292/
https://www.ncbi.nlm.nih.gov/pubmed/34930245
http://dx.doi.org/10.1186/s12920-021-01148-x

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