A novel combination of mutations leading to congenital ichthyosis and ichthyosis vulgaris.
dermatology
genetics
pediatrics and adolescent medicine
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Sep 2023
Sep 2023
Historique:
received:
13
04
2023
revised:
11
08
2023
accepted:
28
08
2023
medline:
22
9
2023
pubmed:
22
9
2023
entrez:
22
9
2023
Statut:
epublish
Résumé
Coexistence of TGM1 and FLG mutations in a newborn with congenital ichthyosis is not well described in the literature. Early genetic testing and counseling are crucial for accurate diagnosis and appropriate management. Further exploration of associated problems, including hearing loss and developmental delay, is warranted in patients with these mutations.
Identifiants
pubmed: 37736478
doi: 10.1002/ccr3.7910
pii: CCR37910
pmc: PMC10509338
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e7910Informations de copyright
© 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
All authors declare that they have no conflicts of interest.
Références
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pubmed: 35912369
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