Article
Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.
American journal of medical genetics. Part A - 1 May 2009
Kratz Christian P, Zampino Giuseppe, Kriek Marjolein, Kant Sarina G, Leoni Chiara, Pantaleoni Francesca, Oudesluys-Murphy Anne Marie, Di Rocco Concezio, Kloska Stephan P, Tartaglia Marco, Zenker Martin
Abstract excerpt
Craniosynostosis, the premature fusion of one or more cranial sutures, is a developmental defect that disrupts the cranial morphogenetic program, leading to variable dysmorphic craniofacial features and associated functional abnormalities. Craniosynostosis is frequently observed as an associated feature in a number of clinically and genetically heterogeneous syndromic conditions, including a group of disorders...
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