Genetic Causes of Craniosynostosis: An Update.
Mol Syndromol
; 10(1-2): 6-23, 2019 Feb.
Article
en En
| MEDLINE
| ID: mdl-30976276
ABSTRACT
In 1993, Jabs et al. were the first to describe a genetic origin of craniosynostosis. Since this discovery, the genetic causes of the most common syndromes have been described. In 2015, a total of 57 human genes were reported for which there had been evidence that mutations were causally related to craniosynostosis. Facilitated by rapid technological developments, many others have been identified since then. Reviewing the literature, we characterize the most common craniosynostosis syndromes followed by a description of the novel causes that were identified between January 2015 and December 2017.
Texto completo:
1
Bases de datos:
MEDLINE
Tipo de estudio:
Etiology_studies
Idioma:
En
Revista:
Mol Syndromol
Año:
2019
Tipo del documento:
Article
País de afiliación:
Países Bajos