A Sporadic Family of Lipoid Proteinosis with Novel ECM1 Gene Mutations.
Clin Cosmet Investig Dermatol
; 17: 885-889, 2024.
Article
em 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.
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MEDLINE
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En
Ano de publicação:
2024
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Article