Syndromic craniosynostoses

Definition:

Craniosynostosis is the premature fusion of the cranial sutures and secondary distortion of skull shape. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial skeletal changes. The genes most frequently mutated are FGFRs.

References:

[1]. David Johnson, et al. Craniosynostosis. Eur J Hum Genet. 2011 Apr;19(4):369-76. [Content Brief]

[2]. David R Fitzpatrick, et al. Filling in the gaps in cranial suture biology. Nat Genet. 2013 Mar;45(3):231-2. [Content Brief]

[3]. Kirk Aleck, et al. Craniosynostosis syndromes in the genomic era. Semin Pediatr Neurol. 2004 Dec;11(4):256-61. [Content Brief]

[4]. Stephen R F Twigg, et al. Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability. Am J Hum Genet. 2015 Sep 3;97(3):378-88. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.