• <em>KAT6B</em> Disorders
• <em>KAT6B</em> Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of <em>KAT6B</em>-Related Disorders
• <em>KAT6B</em>-related disorder in a patient with a novel frameshift variant (c.3925dup)
• A case of Barber-Say syndrome in a male Japanese newborn
• A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype
• Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution
• Barber Say Syndrome (A New Case Report)
• Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View
• Barber-Say syndrome and Ablepharon-Macrostomia syndrome: An overview
• Barber-say syndrome: a confirmed case of <em>TWIST2</em> gene mutation
• Barber-say syndrome: a confirmed case of TWIST2 gene mutation
• Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging
• Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton-Brown-Rahman syndrome and Say-Barber -Biesecker-Young-Simpson variant of ohdo syndrome
• Clinical Description, Molecular Analysis of TWIST2 Gene, and Surgical Treatment in a Patient With Barber-Say Syndrome
• De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment
• Delineation of a Phenotype Caused by a <em>KAT6B</em> Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes
• Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene
• Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
• General anesthesia of a Japanese infant with Barber-Say syndrome: a case report
• High-power laser as a treatment of recurrent gingival fibromatosis in a patient with a rare syndrome: A case report
• Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome
• Impaired Regulation of Histone Methylation and Acetylation Underlies Specific Neurodevelopmental Disorders
• Multidisciplinary eyelid reconstruction in Barber-Say syndrome: A case report
• Multiple rhabdomyomatous mesenchymal hamartomas in a patient with mosaic Barber-Say syndrome
• Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
• Ocular adnexal phenotype and management of a patient with mosaic expression of a mutation in TWIST2
• Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
• The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity
• The KAT6B-related disorders: Burying Say-Barber-Biesecker-Young-Simpson and genitopatellar syndrome
• Transmission of Barber-Say syndrome from a mosaic father to his child in an Indian family