Erythrokeratodermia Variabilis due to a Compound Heterozygous Variants in the <scp> <i>NIPAL4</i> </scp> Gene
We report on a novel pathogenic genetic variant in compound heterozygosis of the NIPAL4 gene c.396C>Gp.(Ile132Met); additionally, we comment on key clinical findings that contribute to the expansion of the EKVP phenotype in childhood.
Authors
- Luis Fernando Sánchez‐Espino (ORCID: https://orcid.org/0000-0001-5136-2851)
- Eulàlia Baselga (ORCID: https://orcid.org/0000-0003-1086-8439)
- Marta Ivars (ORCID: https://orcid.org/0000-0003-2500-3200)
- Judith Armstrong (ORCID: https://orcid.org/0000-0003-0588-9307)
- Asunción Vicente‐López
- Carolina Prat‐Torres
Institutions
- Hospital Sant Joan de Déu Barcelona (ES)
- University of Alberta (CA)
- Stollery Children's Hospital (CA)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2025-06-06
- DOI
- https://doi.org/10.1111/pde.15959
- Primary Topic
- Connexins and lens biology
- Type
- article
- Field-Weighted Citation Impact
- 0.00