PRKD1-related Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome: case report and review of the literature.
PRKD1
TEBC syndrome
ectodermal dysplasia
telangiectasia
Journal
European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089
Informations de publication
Date de publication:
25 Apr 2024
25 Apr 2024
Historique:
received:
20
04
2023
revised:
18
10
2023
accepted:
25
04
2024
medline:
28
4
2024
pubmed:
28
4
2024
entrez:
27
4
2024
Statut:
aheadofprint
Résumé
Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly (TEBC) syndrome is a rare autosomal dominant condition, recently linked to the protein kinase D1 (PRKD1) gene. The phenotype of TEBC remains incomplete at this point. Our aim is to improve the characterization of the clinical and molecular aspects of the TEBC syndrome. We report on the 8
Identifiants
pubmed: 38677542
pii: S1769-7212(24)00034-X
doi: 10.1016/j.ejmg.2024.104942
pii:
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
104942Informations de copyright
Copyright © 2024. Published by Elsevier Masson SAS.