A neonate with Say–Barber–Biesecker–Young–Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report-Reference-Cited by-同舟云学术

A neonate with Say–Barber–Biesecker–Young–Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report

Published:2021-12-31 Issue:2 Volume:18 Page:147-151
ISSN:1226-1769
Container-title:Journal of Genetic Medicine
language:en
Short-container-title:J Genet Med

Author:

Shin Ji Hye¹^ORCID,Lim Han Hyuk¹^ORCID,Gang Mi Hyeon¹^ORCID,Kim Seon Young²^ORCID,Yang Shin-seung³^ORCID,Chang Mea-young¹^ORCID

Affiliation:

1. Department of Pediatrics, Chungnam National University Hospital, Daejeon, Korea

2. Department of Laboratory Medicine, Chungnam National University College of Medicine, Daejeon, Korea

3. Department of Physical Medicine and Rehabilitation, Chungnam National University Hospital, Daejeon, Korea

Funder

Chungnam National University

Publisher

Korean Society of Medical Genetics

Subject

General Medicine

Link

http://pdf.medrang.co.kr/JGM/2021/018/JGM018-02-147.pdf

Reference17 articles.

1. Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

2. Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome–like phenotype and hyperactivated MAPK signaling in humans and mice

3. De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

4. Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants

5. Lemire G, Campeau PM, Lee BH. KAT6B Disorders. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. 2012 Dec 13. 1993-2021. [https://www.ncbi.nlm.nih.gov/books/NBK114806/] (Updated 2020 Jan 2).

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1. De novo KAT6B mutation causes Say–Barber–Biesecker–Young–Simpson variant of Ohdo syndrome in an Iranian boy: a case report;Journal of Medical Case Reports;2024-01-05