Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome.

doi:10.1016/j.ejmg.2023.104906

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Article

Fetal hepatic calcification in severe KAT6A (Arboleda-Tham) syndrome.

European journal of medical genetics - 1 Feb 2024

Di Caprio Antonella, Rossi Cecilia, Bertucci Emma, Bedetti Luca, Bertoncelli Natascia, Miselli Francesca, Corso Lucia, Bondi Carolina, Iughetti Lorenzo, Berardi Alberto, Lugli Licia

Abstract excerpt

Arboleda-Tham syndrome (ARTHS, MIM 616268) is a rare genetic disease, due to a pathogenic variant of Lysine (K) Acetyltransferase 6A (KAT6A) with autosomal dominant inheritance. Firstly described in 2015, ARTHS is one of the more common causes of undiagnosed syndromic intellectual disability. Due to extreme phenotypic variability, ARTHS clinical diagnosis is challenging, mostly at early stage of the disease....

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PMID: 38143025
DOI: 10.1016/j.ejmg.2023.104906

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