Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis | BMC Medical Genetics | Full Text

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis | BMC Medical Genetics | Full Text

Case report: targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

Osteocraniostenosis (OCS) is a rare genetic disorder characterised by premature closure of cranial sutures, gracile bones and perinatal lethality. Previously, diagnosis has only been possible postnatally on cl...

Authors:Lara Pemberton, Robert Barker, Anna Cockell, Vijaya Ramachandran, Andrea Haworth and Tessa Homfray

Citation:BMC Medical Genetics 2020 21:7

Content type:Case report

Published on: 7 January 2020

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