H syndrome with a novel homozygous SLC29A3 mutation in two sisters.
Pediatr Dermatol
; 37(6): 1135-1138, 2020 Nov.
Article
em En
| MEDLINE
| ID: mdl-32776596
ABSTRACT
H syndrome (OMIM 602782) is a recently defined autosomal recessive genodermatosis. Cutaneous findings of H syndrome include hyperpigmentation, hypertrichosis, and induration, while hearing loss, heart anomalies, hepatomegaly, hypogonadism, hyperglycemia (diabetes mellitus), low height (short stature), hallux valgus (flexion contractures), and hematological abnormalities are the extracutaneous abnormalities. We report a novel homozygous missense mutation, c.416T > C p.(Leu139Pro), in the SLC29A3 (NM_001174098.1) gene in two sisters with H syndrome presenting with different phenotypes.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Contratura
/
Proteínas de Transporte de Nucleosídeos
Limite:
Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article