Associated Papers
[A case of Genitopatellar syndrome due to variant of KAT6B gene].
Li SN et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2025
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M et al.
Nature Communications, 2023
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
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Yabumoto M et al.
Molecular Genetics & Genomic Medicine, 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
Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders.
Bashir RA et al.
American Journal of Medical Genetics. Part A, 2017
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
Radvanszky J et al.
Clinical Genetics, 2017
Further delineation of the KAT6B molecular and phenotypic spectrum.
Gannon T et al.
European Journal of Human Genetics : Ejhg, 2015
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B.
Yu HC et al.
American Journal of Medical Genetics. Part A, 2014
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