A severe case of status dystonicus caused by a de novo KMT2B missense mutation-Reference-Cited by-同舟云学术

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A severe case of status dystonicus caused by a de novo KMT2B missense mutation

Published:2020-11 Issue:11 Volume:63 Page:104057
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Nakamura Sadao,Chinen Yasutsugu,Satou Kazuhito,Tokashiki Takashi,Kumada Satoko,Yanagi Kumiko,Kaname Tadashi,Naritomi Kenji,Nakanishi Koichi

Funder

Initiative on Rare and Undiagnosed Diseases in Pediatrics

Japan Agency for Medical Research and Development

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference10 articles.

1. Status dystonicus: A practice guide;Allen;Dev. Med. Child Neurol.,2014

2. Structural basis for activity regulation of MLL family methyltransferases;Li;Nature,2016

3. Status dystonicus: The syndrome and its management;Manji;Brain,1998

4. Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia;Meyer;Nat. Genet.,2017

5. Status dystonicus a rare complication of dystonia;Mishra;Indian Pediatr.,2010

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