期刊
ORTHODONTICS & CRANIOFACIAL RESEARCH
卷 10, 期 3, 页码 129-137出版社
WILEY
DOI: 10.1111/j.1601-6343.2007.00393.x
关键词
FGFR; TWIST; craniosynostosis; craniofacial; birth defects
资金
- NCRR NIH HHS [M01-RR00052] Funding Source: Medline
- NIDCR NIH HHS [R01 DE016886, R03 DE016342, K23 DE00462] Funding Source: Medline
Craniosynostosis is a common malformation occurring in 3-5 per 10 000 live births. Most often craniosynostosis occurs as an isolated (i.e. non-syndromic) anomaly. Non-syndromic craniosynostosis (NSC) is a clinically and genetically heterogeneous condition that has the characteristics of a multifactorial trait, It is believed that each sutural synostosis (e.g. sagittal, coronal) represents a different disease. Significant progress has been made in understanding the clinical and molecular aspects of monogenic syndromic craniosynostosis. However, the phenotypic characterization of NSC is incomplete and its causes remain unknown. This review summarizes the available knowledge on NSC and presents a systematic approach aimed at the identification of genetic and non-genetic factors contributing to the risk of this common craniofacial defect.
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