Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis

An accurate diagnosis of syndromic craniosynostosis (CS) is important for personalized treatment, surveillance, and genetic counselling. We describe detailed clinical criteria for syndromic CS and the distribution of genetic diagnoses within the cohort. The prospective registry of the Norwegian Nati...

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Detalles Bibliográficos
Autores principales: Tønne, Elin, Due-Tønnessen, Bernt Johan, Mero, Inger-Lise, Wiig, Ulrikke Straume, Kulseth, Mari Ann, Vigeland, Magnus Dehli, Sheng, Ying, von der Lippe, Charlotte, Tveten, Kristian, Meling, Torstein Ragnar, Helseth, Eirik, Heimdal, Ketil Riddervold
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8187391/
https://www.ncbi.nlm.nih.gov/pubmed/33288889
http://dx.doi.org/10.1038/s41431-020-00788-4

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