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

• Prif Awduron: Soyoung Bae (Awdur), Aram Yang (Awdur), Jinsup Kim (Awdur), Hyun Ju Lee (Awdur), Hyun Kyung Park (Awdur)
• Fformat: Llyfr
• Cyhoeddwyd: BMC, 2021-12-01T00:00:00Z.
• Pynciau: article
• Mynediad Ar-lein: Connect to this object online.

Abstract 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...