A carregar...
Publicação
Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation
| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 636.5 KB | Adobe PDF |
Orientador(es)
Resumo(s)
We report a neonate who was diagnosed as a case of skeletal dysplasia during pregnancy, and was subsequently
diagnosed as a case of MLII alpha/beta on the basis of clinical and radiological findings and molecular testing of
the parents. A novel GNPTAB mutation c.1701delC [p.F566LfsX5] was identified in the father. The case reiterates
the severe prenatal phenotype of MLII alpha/beta which mimics skeletal dysplasia and illustrates the utility of
molecular genetic analysis in confirmation of diagnosis and subsequent genetic counselling.
Descrição
Palavras-chave
Doenças Genéticas Genética Humana GNPTAB Molecular Characterization Mucolipidosis Type II alpha/beta Skeletal Dysplasia
Contexto Educativo
Citação
Gene. 2014 Jun 1;542(2):266-8. doi: 10.1016/j.gene.2014.03.053. Epub 2014 Mar 28
Editora
Elsevier