A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl
Clin Exp Dermatol
.
2018 Jan;43(1):60-62.
doi: 10.1111/ced.13241.
Epub 2017 Sep 22.
Authors
K Lei
1
,
Y Zhang
2
,
Z Dong
1
,
Y Sun
3
,
Z Yi
2
,
Z Chen
2
Affiliations
1
Pediatric Institute, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China.
2
Neurological and Endocrine Department of Pediatric Center, Affiliated Hospital of Qingdao University, 16 Jiangsu Road, Qingdao, Shandong, China.
3
Ophtalmology Department of Central Hospital of Qingdao, Second Clinical Medical College of Qingdao University, Qingdao, Shandong, China.
PMID:
28940425
DOI:
10.1111/ced.13241
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Base Pairing / genetics
Child, Preschool
Ectodermal Dysplasia / genetics*
Female
Genetic Diseases, X-Linked*
Humans
Sequence Deletion*
X Chromosome Inactivation*