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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Gepubliceerd in:BMC Med Genet
Hoofdauteurs: Pemberton, Lara, Barker, Robert, Cockell, Anna, Ramachandran, Vijaya, Haworth, Andrea, Homfray, Tessa
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2020
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Case Report
Online toegang: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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