Mosaic <i>GJB2</i> mutation <scp>A88V</scp> leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma-Reference-Cited by-同舟云学术

Mosaic GJB2 mutation A88V leading to diffuse neonatal hyperkeratosis and porokeratotic hamartoma

Published:2023-02-17 Issue:6 Volume:37 Page:
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:Acad Dermatol Venereol

Author:

Letertre O.¹^ORCID,Jullie M. L.²,Reboul M. P.³,Leclerc‐Mercier S.⁴,Charbit F.⁵,Boralevi F.¹,Labrèze C.¹,Hadj‐Rabia S.⁶^ORCID,Morice‐Picard F.¹^ORCID

Affiliation:

1. Department of Dermatology and Pediatric Dermatology, National Reference Centre for Rare Disorders, Hôpital des Enfants Pellegrin, European Network Skin Diseases Centre Hospitalier Universitaire du Bordeaux Bordeaux France

2. Department of Pathology CHU de Bordeaux Pessac France

3. Department of Medical Genetics CHU de Bordeaux Bordeaux France

4. Department of Pathology and Reference Center for Genodermatoses (MAGEC Center), Necker‐Enfants Malades Hospital Paris Centre University Paris France

5. Department of Genetics and Reference Center for Genodermatoses (MAGEC Center), Necker‐Enfants Malades Hospital Paris Centre University Paris France

6. Department of Dermatology and Reference Center for Genodermatoses (MAGEC Center), Necker‐Enfants Malades Hospital Paris Centre University Paris France

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.18935

Reference9 articles.

1. More than keratitis, ichthyosis, and deafness: Multisystem effects of lethal GJB2 mutations

2. Update of spectrum c.35delG and c.‐23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss

3. A Somatic p.G45EGJB2Mutation Causing Porokeratotic Eccrine Ostial and Dermal Duct Nevus

4. A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome

5. Keratitis‐ichthyosis‐deafness syndrome: Phenotypic heterogeneity and treatment perspective of patients with p. Asp50Asn GJB2 mutation

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1. Mosaic GJB2 mutations in widespread porokeratotic adnexal ostial nevus: Report of two patients;The Journal of Dermatology;2024-01-31

2. HRAS mosaicism in linear palmoplantar keratoderma;Journal of the European Academy of Dermatology and Venereology;2023-11-10