A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation
Journal of Genetic Medicine
; : 31-34, 2012.
Article
em En
| WPRIM
| ID: wpr-66743
Biblioteca responsável:
WPRO
ABSTRACT
Spondyloepiphyseal dysplasia tarda (SEDT) is an X-linked skeletal dysplasia. Patients show disproportionate short stature with short trunk and barrel-shaped chest, which usually become pronounced in late childhood. The radiologic findings are characterized by narrow intervertebral disc spaces and moderate epiphyseal dysplasia of long bones. Here we report a case of SEDT with a novel frameshift mutation in TRAPPC2, the disease-causing gene of SEDT. This is the first Korean report with SEDT confirmed by genetic testing.
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Texto completo:
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Base de dados:
WPRIM
Assunto principal:
Osteocondrodisplasias
/
Tórax
/
Testes Genéticos
/
Mutação da Fase de Leitura
/
Disco Intervertebral
Limite:
Humans
Idioma:
En
Revista:
Journal of Genetic Medicine
Ano de publicação:
2012
Tipo de documento:
Article