Prenatal Diagnosis of Arboleda‐Tham Syndrome Associated With KAT6A Variants Presented With Interrupted Inferior Vena Cava and Fetal Growth Restriction
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DOI: 10.1002/pd.6845
Abstract: Arboleda‐Tham syndrome (ARTHS) is an autosomal dominant disorder characterized by core features of developmental delay and intellectual disability. While ARTHS has been documented in numerous postnatal patients, only a limited number of prenatal cases have… read more here.
Keywords: diagnosis; arboleda tham; vena; vena cava ... See more keywords
Clinical manifestations and genetic analysis of a newborn with Arboleda−Tham syndrome
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DOI: 10.3389/fgene.2022.990098
Abstract: Arboleda−Tham syndrome (ARTHS) is a rare disorder first characterized in 2015 and is caused by mutations in lysine (K) acetyltransferase 6A (KAT6A, a.k.a. MOZ, MYST3). Its clinical symptoms have rarely been reported in newborns from… read more here.
Keywords: manifestations genetic; arboleda tham; tham syndrome; clinical manifestations ... See more keywords