Fulminant myocarditis following recurrent generalized erythrokeratoderma in a child with a heterozygous GJA1 variant
Author:
Affiliation:
1. Department of Pediatrics, Graduate School of MedicineChiba University Chiba Japan
2. Department of BiochemistryHamamatsu University School of Medicine Hamamatsu Japan
3. Department of DermatologyJuntendo University Urayasu Hospital Urayasu Japan
Funder
Grant-in-Aid from Chiba University
HUSM Grant-in-Aid from Hamamatsu University School of Medicine
The Japan Society for the Promotion of Science
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61626
Reference25 articles.
1. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia
2. Mutations of theConnexin43Gap-Junction Gene in Patients with Heart Malformations and Defects of Laterality
3. Hypotrichosis with keratosis follicular and hyperostosis: a new phenotype due to GJA 1 mutation
4. Palmoplantar keratoderma, pseudo-ainhum, and universal atrichia: A new patient and review of the palmoplantar keratoderma-congenital alopecia syndrome
5. Identification of connexin43 (α1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE)
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