Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

• Tipo: Artigo em Revista Científica Internacional
• Data: 2014

Autores

Shagun Aggarwal (Autor) Outra; Maria Francisca Coutinho (Autor) Outra; Ashwin B Dalal (Autor) Outra; Jamal Mohamed Nurul N Jain (Autor) Outra; Maria Joao Prata (Autor) FCUP; Sandra Alves (Autor) Outra

Revista

Título: Gene

Vol. 542

Páginas: 266-268

ISSN: 0378-1119

Editora: Elsevier

Indexação

ISI Web of Knowledge - 8 Citações

Scopus - 8 Citações

Classificação Científica

FOS: Ciências exactas e naturais > Ciências da terra e ciências do ambiente

Outras Informações

ID Authenticus: P-009-9VA

DOI: 10.1016/j.gene.2014.03.053

Abstract (EN): 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.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 3