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Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review

✍ Scribed by Nur, Banu G.; Pehlivanoğlu, Suray; Mıhçı, Ercan; Çalışkan, Mualla; Demir, Durkadın; Alper, Özgül M.; Kayserili, Hülya; Lüleci, Güven

Book ID
121672342
Publisher
Elsevier Science
Year
2014
Tongue
English
Weight
1017 KB
Volume
50
Category
Article
ISSN
0887-8994

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## Abstract Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the Pro250Arg mutation in the __FGFR3__ gene. Reduced penetrance and variable expressivity contribute to