A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family
Abstract Background Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder that affects the development of the skin, hair, nails, teeth, and sweat glands. Due to its rarity, there are currently few methods that can be applied to facilitate its diagnosis during the prenatal period. Althou...
Saved in:
| Main Authors: | Limin Yao, Lilan Wan, Yunhong Lin, Yinhong Zhang, Xilun Cai, Jianhong Ye, Guangyu He, Baosheng Zhu, Jinman Zhang |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMC
2025-08-01
|
| Series: | BMC Pregnancy and Childbirth |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s12884-025-07963-9 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Case report: Atopic dermatitis-like skin manifestations in hypohidrotic ectodermal dysplasia caused by a novel splice site mutation of the EDA gene successfully treated with dupilumab
by: Eri Uchiyama, et al.
Published: (2025-01-01) -
Keratoconus as a Rare Manifestation of Hypohidrotic Ectodermal Dysplasia
by: Tanvi Chandel, et al.
Published: (2025-01-01) -
Customized Prosthetic Oral Rehabilitation of a Child with Hypohidrotic Ectodermal Dysplasia: A Case Report
by: Hitesh Chander Mittal, et al.
Published: (2024-04-01) -
Hypohidrotic Ectodermal Dysplasia: Prosthetic Rehabilitation of a Rare Pediatric Case
by: Monalisa Das, et al.
Published: (2024-09-01) -
X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease
by: Yamato Hanawa, et al.
Published: (2025-06-01)