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...
Main Author: | |
---|---|
Format: | Article |
Language: | zho |
Published: |
Institute of Basic Medical Sciences and Peking Union Medical College Hospital, Chinese Academy of Medical Sciences / Peking Union Medical College.
2021-01-01
|
Series: | Jichu yixue yu linchuang |
Subjects: | |
Online Access: | http://journal11.magtechjournal.com/Jwk_jcyxylc/fileup/1001-6325/PDF/a191213.pdf |