Craniosynostosis

被引：346
作者：
Johnson, David [1 ]
Wilkie, Andrew O. M. [2 ]
机构：
[1] Univ Oxford, John Radcliffe Hosp, Weatherall Inst Mol Med, Oxford Craniofacial Unit,Oxford Radcliffe Hosp NH, Oxford OX3 9DS, England
[2] Univ Oxford, Weatherall Inst Mol Med, Oxford OX3 9DS, England
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2011年 / 19卷 / 04期
基金：
英国惠康基金; 英国医学研究理事会;
关键词：
craniosynostosis; FGFR; TWIST; SAETHRE-CHOTZEN-SYNDROME; CROUZON-SYNDROME; FGFR2; MUTATIONS; MOUSE MODEL; CRANIOFRONTONASAL SYNDROME; SOMATIC MOSAICISM; APERT-SYNDROME; GENE; TWIST; DISORDERS;
D O I：
10.1038/ejhg.2010.235
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Craniosynostosis, defined as the premature fusion of the cranial sutures, presents many challenges in classification and treatment. At least 20% of cases are caused by specific single gene mutations or chromosome abnormalities. This article maps out approaches to clinical assessment of a child presenting with an unusual head shape, and illustrates how genetic analysis can contribute to diagnosis and management.
引用
收藏
页码：369 / 376
页数：8
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