A Sporadic Family of Lipoid Proteinosis with Novel ECM1 Gene Mutations.
Clin Cosmet Investig Dermatol
; 17: 885-889, 2024.
Article
in En
| MEDLINE
| ID: mdl-38651074
ABSTRACT
Lipoid proteinosis (LP) is an uncommon, autosomal recessive genetic disorder. Multigene panel testing was conducted to confirm the diagnosis of a sporadic family with suspected LP. In the proband, we identified two mutations of ECMI and provided genetic evidence for informed genetic counselling.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Clin Cosmet Investig Dermatol
Year:
2024
Document type:
Article