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Article

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

BMC medical genomics - 20 Dec 2021

Bae Soyoung, Yang Aram, Kim Jinsup, Lee Hyun Ju, Park Hyun Kyung

Abstract excerpt

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 presented multiple facial deformities including a high arched and cleft palate, with philtral ridge and vermilion...

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Identifiers

PMID: 34930245
DOI: 10.1186/s12920-021-01148-x
PMCID: PMC8686292

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