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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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Publicado en:BMC Med Genet
Main Authors: Pemberton, Lara, Barker, Robert, Cockell, Anna, Ramachandran, Vijaya, Haworth, Andrea, Homfray, Tessa
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2020
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Acceso en liña: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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