A Chinese family with autosomal recessive congenital ichthyosis and Leber congenital amaurosis due to mutations in PNPLA1 and LCA5
Eur J Dermatol
.
2018 Feb 1.
doi: 10.1684/ejd.2018.3221.
Online ahead of print.
Authors
Hui-Juan Zhao
1
,
Xin Zeng
2
,
Peng-Cheng Lei
1
,
Xiao-Dan Jiang
3
,
Xue-Min Li
3
,
Hui-Min Yan
1
,
Du-Yi Guo
1
,
Xue-Yan Lu
1
,
Wei Jiang
1
Affiliations
1
Department of Dermatology, Peking University Third Hospital, Beijing, China.
2
Key Laboratory of Structural Biology, School of Chemical Biology & Biotechnology, Peking University Shenzhen Graduate School, Shenzhen, China.
3
Department of Ophthalmology, Peking University Third Hospital, Beijing, China.
PMID:
29400301
DOI:
10.1684/ejd.2018.3221
No abstract available