Associated Papers
A Novel De Novo KAT6B Mutation Causes Hypospadias in a Chinese Fetus at 29 Weeks Gestation.
Zhong X et al.
Reproductive Sciences (thousand Oaks, Calif.), 2025
A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.
Turkyilmaz A et al.
Clinical Dysmorphology, 2021
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.
Zhang LX et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting?
Lonardo F et al.
Clinical Genetics, 2019
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.
Brea-Fernández A et al.
American Journal of Medical Genetics. Part A, 2019
A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome.
Niida Y et al.
Congenital Anomalies, 2017
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
Radvanszky J et al.
Clinical Genetics, 2017
Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.
Fokstuen S et al.
Human Genomics, 2016
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
Campeau PM et al.
Human Mutation, 2012
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
Clayton-Smith J et al.
American Journal of Human Genetics, 2011
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