Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.

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Bibliographic Details
Title: Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders.
Authors: Yap CS; Research Laboratory, KK Women's & Children's Hospital, Singapore., Jamuar SS; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore., Lai AHM; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore., Tan ES; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore., Ng I; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore., Ting TW; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore., Tan EC; Research Laboratory, KK Women's & Children's Hospital, Singapore; Genetics Service, KK Women's & Children's Hospital, Singapore; Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore. Electronic address: tan.ene.choo@kkh.com.sg.
Source: Gene [Gene] 2020 Mar 20; Vol. 731, pp. 144360. Date of Electronic Publication: 2020 Jan 11.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1879-0038
DOI:10.1016/j.gene.2020.144360