Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient.
Front Endocrinol (Lausanne)
; 15: 1418254, 2024.
Article
en En
| MEDLINE
| ID: mdl-39129919
ABSTRACT
Xeroderma pigmentosum is a rare autosomal recessive genodermatoses characterized by a deficiency in nucleotide excision repair. Erythropoietic protoporphyria is a rare inherited metabolic disease caused by the perturbation of heme. Xeroderma pigmentosum-erythropoietic protoporphyria is exceedingly rare. Hereby, we firstly report a young Chinese patient of xeroderma pigmentosum Group A with erythropoietic protoporphyria carrying an XPA Met214AsnfsTer7 frameshift mutation and a homozygous splicing mutation, c.315-48T>C, in the proband's intron3 of FECH.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Xerodermia Pigmentosa
/
Protoporfiria Eritropoyética
/
Ferroquelatasa
Límite:
Female
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
En
Revista:
Front Endocrinol (Lausanne)
Año:
2024
Tipo del documento:
Article
País de afiliación:
China