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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Detalles Bibliográficos
Autores principales: Pemberton, Lara, Barker, Robert, Cockell, Anna, Ramachandran, Vijaya, Haworth, Andrea, Homfray, Tessa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947839/
https://www.ncbi.nlm.nih.gov/pubmed/31910817
http://dx.doi.org/10.1186/s12881-019-0939-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6947839/
https://www.ncbi.nlm.nih.gov/pubmed/31910817
http://dx.doi.org/10.1186/s12881-019-0939-z

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