Pediatric blood & cancerHumansHistone AcetyltransferasesMaleHematopoietic Stem Cell TransplantationFemale
Bone Marrow Failure as an Underrecognized Feature of KAT6A Syndrome.
Ye Jee Shim, Bruce Crooks, Hyoung Jin Kang, Kyung Taek Hong, Jung Yoon Choi, Hye Ra Jung, Chang Ahn Seol, Rinu Mathew, Yigal Dror
Published: 202610.1002/1545-5017.70023
Abstract
KAT6A syndrome (Arboleda-Tham syndrome) is a rare disorder caused by heterozygous pathogenic variants in KAT6A, a histone acetyltransferase essential for chromatin remodeling and hematopoietic stem cell function. While neurodevelopmental features are…
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