ArticleIndian journal of dermatology
Clinical and Genetic Characteristics of Ectodermal Dysplasia in Four Indian Children.
Article in Indian journal of dermatology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 3 citations in OpenAlex.
- Clinical, genetic, and immunologic features of APS-1 patients from the Middle East, and a review of the literature.Journal of human immunity · 2026Article
- Genetic syndromes in paediatric alopecia areata: a systematic review.Skin health and disease · 2025Review
- Novel familialBiomedical reports · 2025Article
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Authors and funding
8 authors at 1 institution in 1 country.
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Abstract
Introduction: Ectodermal dysplasias (EDs) affect structures derived from the ectoderm such as skin, its appendages, nail, and teeth. In this series, we describe four patients presenting with a clinical phenotype of dysplasia of one or more ectodermal structures who underwent next-generation sequencing for mutational analysis. Case Series: The clinical phenotype of three patients was hypohidrotic ectodermal dysplasia (HED) and one patient was diagnosed with autoimmune polyglandular syndrome (APS) type 1. Two patients with classical clinical features of X-linked HED (XLHED) had mutations in Conclusion: The present series highlights the clinic-genetic correlation in four patients with features of ED. Two variants of uncertain significance and two previously unreported variants were also found in this study.
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