Associated Papers
Diagnosis of Arboleda-Tham syndrome by whole-exome sequencing in an Asian girl with severe developmental delay.
Wang Q et al.
Molecular Genetics & Genomic Medicine, 2024
38773911 (PubMed )
Supplement: MGG3-12-e2420-s001.xlsx › Table_S1
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
Singh M et al.
Human Genetics, 2023
37861717 (PubMed )
Supplement: 439_2023_2608_MOESM1_ESM.xlsx › TableS1_Patient_Mutations
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster.
Singh M et al.
Biorxiv : the Preprint Server for Biology, 2023
37577627 (PubMed )
Supplement: media-2.xlsx › TableS1_Patient_Mutations
Speech and language development and genotype-phenotype correlation in 49 individuals with KAT6A syndrome.
St John M et al.
American Journal of Medical Genetics. Part A, 2022
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