Disease: Patella hypoplasia mental retardation
- A further patient with genitopatellar syndrome requiring multidisciplinary management
- A long noncoding RNA cluster-based genomic locus maintains proper development and visual function
- A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders
- A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes
- 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
- Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome
- De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome
- Further delineation of the KAT6B molecular and phenotypic spectrum
- Genitopatellar syndrome and neuroblastoma: The multidisciplinary management of a previously unreported association
- Genitopatellar Syndrome Secondary to <em>De Novo</em> <em>KAT6B</em> Mutation: The First Genetically Confirmed Case in South Korea
- Neurobehavioral Alterations in a Genetic Murine Model of Feingold Syndrome 2
- Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders
- Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
- Patellofemoral instability in trisomy 21: MPFL-Reconstruction as a single procedure
- TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease