A novel CUL7 mutation in a Japanese patient with 3M syndrome.
Hum Genome Var
; 5: 30, 2018.
Article
em En
| MEDLINE
| ID: mdl-30374406
ABSTRACT
3M syndrome is an autosomal recessive disease characterized by severe pre-natal and post-natal growth retardation, dysmorphic facial features, and skeletal abnormalities. We present a patient with 3M syndrome caused by the compound heterozygous mutations p.Trp68* and p.Gly1452Asp in CUL7, the latter of which is novel, who exhibited a good body height response to growth hormone treatment. These results expand our knowledge of phenotype-genotype correlations in 3M syndrome, including correlations relevant to growth hormone response.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Hum Genome Var
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Japão