Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant Latest Advances

Variable expressivity of a transmitted pathogenic KAT6B variant.

Journal: European journal of medical genetics

Published: February 25, 2024

Establishment of a human induced pluripotent stem cell line, KMUGMCi008-A, from a patient with A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome bearing heterozygous frameshift mutation in the KAT6B gene.

Journal: Stem cell research

Published: December 20, 2023

Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: December 01, 2022

Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.

Journal: The Journal of clinical investigation

Published: December 01, 2022

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

Journal: Molecular genetics & genomic medicine

Published: July 28, 2021

Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: June 07, 2021

A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.

Journal: Clinical dysmorphology

Published: June 02, 2021

A case of SBBYSS syndrome caused by KAT6B gene variant

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: July 15, 2019

A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.

Journal: Clinical dysmorphology

Published: March 29, 2019

Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome.

Journal: The American journal of case reports

Published: February 11, 2019

De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment.

Journal: Neurologia

Published: January 04, 2019

Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.

Journal: American journal of medical genetics. Part A

Published: June 13, 2018

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Variable expressivity of a transmitted pathogenic KAT6B variant.

Variable expressivity of a transmitted pathogenic KAT6B variant.

Establishment of a human induced pluripotent stem cell line, KMUGMCi008-A, from a patient with A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome bearing heterozygous frameshift mutation in the KAT6B gene.

Establishment of a human induced pluripotent stem cell line, KMUGMCi008-A, from a patient with A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome bearing heterozygous frameshift mutation in the KAT6B gene.

Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene

Diagnosis of a child with Say-Barber-Biesecker-Young-Simpson syndrome due to variant of KAT6B gene

Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.

Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.

Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome

Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome

A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.

A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.

A case of SBBYSS syndrome caused by KAT6B gene variant

A case of SBBYSS syndrome caused by KAT6B gene variant

A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.

A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.

Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome.

Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome.

De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment.

De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment.

Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.

Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders.