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

BACKGROUND: 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 clinical and radiological features. This study describes the first prenatal diagn...

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Bibliographic Details
Published in:BMC Med Genet
Main Authors: Pemberton, Lara, Barker, Robert, Cockell, Anna, Ramachandran, Vijaya, Haworth, Andrea, Homfray, Tessa
Format: Artigo
Language:Inglês
Published: BioMed Central 2020
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Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6947839/
https://ncbi.nlm.nih.gov/pubmed/31910817
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0939-z
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