A rare case of X-linked hypohidrotic ectodermal dysplasia with chorioretinal lesions by missense mutation in ectodysplasin A gene from Northeast India
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic condition affecting 1–7 cases in 10,000 live births. It is the most common type of ectodermal dysplasia. Here, we report a case of X-linked HED with missense mutation in ectodysplasin A gene with choroiditis lesion.
Authors
- Madhusmita Mahapatra (ORCID: https://orcid.org/0000-0003-4469-8482)
- Manjisa Choudhury (ORCID: https://orcid.org/0000-0002-6651-8019)
- Dipankar Das (ORCID: https://orcid.org/0000-0002-5263-0050)
- Nilutparna Deori
Institutions
- Sankara Nethralaya (IN)
Publication Details
- Journal
- Journal of Ophthalmic Research and Practice
- Published
- 2024-11-21
- DOI
- https://doi.org/10.25259/jorp_22_2024
- Primary Topic
- dental development and anomalies
- Type
- article
- Field-Weighted Citation Impact
- 0.00