Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.
Human mutation · 2026
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HumansHistone AcetyltransferasesGenetic Association StudiesPhenotypeIntellectual DisabilityBlepharophimosisFemaleCongenital HypothyroidismJoint InstabilityHeart Defects, CongenitalUrogenital AbnormalitiesPatellaMaleMutationExome SequencingPsychomotor DisordersChild, PreschoolChildCraniofacial AbnormalitiesCodon, NonsenseKidneyScrotumFaciesGenitopatellar syndromeKAT6B-related disordersRNA sequencingSay–Barber–Biesecker–Young–Simpson syndromegenotype–phenotype correlationobstructive sleep apnea
Come citare questo studio
Vito Luigi Colona, Maria Gnazzo, Annalidia Donato, Lavinia Fioretti, Alessandra Terracciano, Delia Monopoli, Paola Sabrina Buonuomo, Michaela Veronika Gonfiantini, Donatella Lettori, Roberta Taurisano, Tommaso Mazza, Daniela Concolino, Mafalda Mucciolo, Marina Macchiaiolo, Antonio Novelli, Davide Vecchio. (2026). Clinical and Molecular Delineation of KAT6B-Related Disorders: Novel Variants and Refined Genotype-Phenotype Correlations.. Human mutation. DOI: 10.1155/humu/6378376
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