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...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Termedia Publishing House
2016-05-01
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Series: | Polish Journal of Pathology |
Subjects: | |
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 |