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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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Bibliografiska uppgifter
I publikationen:BMC Med Genet
Huvudupphovsmän: Pemberton, Lara, Barker, Robert, Cockell, Anna, Ramachandran, Vijaya, Haworth, Andrea, Homfray, Tessa
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2020
Ämnen:
Länkar: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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