Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach

Identification of a molecular defect in a stillborn fetus with perinatal lethal hypophosphatasia using a disease-associated genome sequencing approach

Lethal skeletal disorders represent a heterogeneous and clinically variable group of genetic conditions, usually difficult to diagnose without post-mortem radiological assessment. Here we report on a stillborn patient delivered at 22 weeks of gestation who presented with severe skeletal symptoms com...

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Bibliographic Details
Main Authors: Ewelina M. Olech, Tomasz Zemojtel, Anna Sowińska-Seidler, Peter N. Robinson, Stefan Mundlos, Marek Karczewski, Aleksander Jamsheer
Format: Article
Language:English
Published: Termedia Publishing House 2016-05-01
Series:Polish Journal of Pathology
Subjects:
hypophosphatasia
ALPL
skeletal dysplasia
prenatal diagnosis
NGS
Online Access:https://www.termedia.pl/Identification-of-a-molecular-defect-in-a-stillborn-fetus-with-perinatal-lethal-hypophosphatasia-using-a-disease-associated-genome-sequencing-approach,55,27425,1,1.html

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https://www.termedia.pl/Identification-of-a-molecular-defect-in-a-stillborn-fetus-with-perinatal-lethal-hypophosphatasia-using-a-disease-associated-genome-sequencing-approach,55,27425,1,1.html

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