A case of hereditary novel mutation in SLC26A2 gene (c.1796 A.> C) identified in a couple with a fetus affected with atelosteogenesis type 2 phenotype in an antecedent pregnancy

A case of hereditary novel mutation in SLC26A2 gene (c.1796 A.> C) identified in a couple with a... Abstract Atelosteogenesis type 2 also known as atelosteogenesis de la Chapelle type, De la Chapelle dysplasia, McAlister dysplasia or neonatal osseous dysplasia 1 is an extremely lethal osteochondrodysplasia with unknown incidence. Very few cases have been reported in the literature. We present a case with findings of prenatal ultrasound, autopsy and cytogenetic work up with report of a novel familial mutation. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Case Reports in Perinatal Medicine de Gruyter

A case of hereditary novel mutation in SLC26A2 gene (c.1796 A.> C) identified in a couple with a fetus affected with atelosteogenesis type 2 phenotype in an antecedent pregnancy

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Publisher
de Gruyter
Copyright
Copyright © 2016 by the
ISSN
2192-8932
eISSN
2192-8959
DOI
10.1515/crpm-2014-0059
Publisher site
See Article on Publisher Site

Abstract

Abstract Atelosteogenesis type 2 also known as atelosteogenesis de la Chapelle type, De la Chapelle dysplasia, McAlister dysplasia or neonatal osseous dysplasia 1 is an extremely lethal osteochondrodysplasia with unknown incidence. Very few cases have been reported in the literature. We present a case with findings of prenatal ultrasound, autopsy and cytogenetic work up with report of a novel familial mutation.

Journal

Case Reports in Perinatal Medicinede Gruyter

Published: Mar 1, 2016

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