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Genitopatellar Syndrome With a Novel Variant in the KAT6B Gene: Supporting Spectrum Delineation.
Cureus
September 2024
Pediatric Neurology, The University of Toledo, Toledo, USA.
Genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) are rare genetic disorders linked to mutations in the Lysine Acetyltransferase 6B (KAT6B) gene, affecting histone acetylation regulation and developmental processes. We present a case of an African American infant with classic GPS features and a novel KAT6B gene mutation (c.4066del, p.
View Article and Find Full Text PDFClinical heterogeneity of polish patients with KAT6B-related disorder.
Mol Genet Genomic Med
December 2023
Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wroclaw, Wroclaw, Poland.
Background: Say-Barber-Biesecker-Young-Simpson (SBBYSS) variant of Ohdo syndrome is a rare, autosomal dominant and clinically heterogenous disorder, caused by pathogenic variants in the KAT6B gene located on chromosome 10q22.2. KAT6B encodes a highly conserved histone acetyltransferase belonging to the MYST family.
View Article and Find Full Text PDFClinical features and the genetic analysis of KAT6B-related diseases caused by a de novo mutation of the KAT6B gene c.621+1G>A.
Asian J Surg
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Department of Endocrinology, Genetics and Metabolism, Nanchang University, Children's Hospital of Nanchang University, Children's Hospital of Jiangxi Province, Nanchang, 330006, Jiangxi, China.
Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
Mol Genet Genomic Med
October 2021
Department of Human Genetics, David Geffen School of Medicine, UCLA, Los Angeles, California, USA.
The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a.
View Article and Find Full Text PDF[The KAT6B-related disorders: Burying Say-Barber-Biesecker-Young-Simpson and genitopatellar syndrome].
An Pediatr (Engl Ed)
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Hospital Materno-Infantil, Hospital Regional Universitario de Málaga, Málaga, España.
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