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Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum | Synapse

February 22, 2026Pediatric Dermatology0 citationsOpen Access

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Pure Hair‐Nail Ectodermal Dysplasia: Expanding the HOXC13 Genotypic Spectrum

ASApoorva SharmaPost Graduate Institute of Medical Education and Research ABAnuradha BishnoiUniversity of Pittsburgh

Key Points

The research aims to expand the understanding of the genotypic variations associated with pure hair-nail ectodermal dysplasia.
Analysis of genetic samples related to ectodermal dysplasia.
Assessment of mutations in the HOXC13 gene.
Identified new variants in the HOXC13 gene linked to ectodermal dysplasia.
Expanded the known genotypic spectrum of hair-nail ectodermal dysplasia.

Abstract

The data that support the findings of this study are available from the corresponding author upon reasonable request.

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Cite This Study

Sharma et al. (Thu,) studied this question.

synapsesocial.com/papers/699a9d50482488d673cd3249 https://doi.org/https://doi.org/10.1111/pde.70167

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