Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report-Reference-Cited by-同舟云学术

Individual Clinically Diagnosed with CHARGE Syndrome but with a Mutation in KMT2D, a Gene Associated with Kabuki Syndrome: A Case Report

Published:2017-12-11 Issue: Volume:8 Page:
ISSN:1664-8021
Container-title:Frontiers in Genetics
language:
Short-container-title:Front. Genet.

Author:

Sakata Sonoko,Okada Satoshi,Aoyama Kohei,Hara Keiichi,Tani Chihiro,Kagawa Reiko,Utsunomiya-Nakamura Akari,Miyagawa Shinichiro,Ogata Tsutomu,Mizuno Haruo,Kobayashi Masao

Funder

Japan Agency for Medical Research and Development

Publisher

Frontiers Media SA

Subject

Genetics (clinical),Genetics,Molecular Medicine

Reference38 articles.

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2. KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.;Badalato;Am. J. Med. Genet. A,2017

3. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).;Banka;Clin. Genet.,2015

4. How genetically heterogeneous is Kabuki syndrome? MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.;Banka;Eur. J. Hum. Genet.,2012

5. CHARGE association: an update and review for the primary pediatrician.;Blake;Clin. Pediatr.,1998

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