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

doi:10.1016/j.gene.2014.03.053

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Article

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

Gene - 1 Jun 2014

Aggarwal Shagun, Coutinho Maria Francisca, Dalal Ashwin B, Mohamed Nurul Jain S Jamal, Prata Maria João, Alves Sandra

Abstract excerpt

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...

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