Article
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis.
European journal of human genetics : EJHG - 1 Jun 2021
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
Abstract excerpt
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 National Unit for Craniofacial Surgery was used to retrieve individuals with syndromic CS born between 1 January 2002...
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