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