A case of Kabuki syndrome with precocious puberty and short stature due to novel KDM6A splice-site mutation

Objective To investigate the pathogenic gene mutations and clinical characteristics of type 2 Kabuki syndrome by analyzing a patient with novel splicing KDM6A gene mutation. Methods Clinical features, laboratory data and radiologic manifestations were collected. The whole exon was sequenced. Resul...

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Bibliographic Details

Published in:	Jichu yixue yu linchuang
Main Author:	ZHAO Ya-ling, LI Shu-ying, WANG Xi, NIE Min, WU Xue-yan, MAO Jiang-feng
Format:	Article
Language:	Chinese
Published:	Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College. 2021-01-01
Subjects:	kabuki syndrome|kdm6a|central precocious puberty|splicing mutation|dwarfism
Online Access:	http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/a191213.pdf