Clinicogenetic Study of Turkish Patients With Syndromic Craniosynostosis and Literature Review

Abstract Background Fibroblast growth factor receptor 2 mutations have been associated with the craniosynostotic conditions of Apert, Crouzon, Pfeiffer, Saethre-Chotzen, Jackson-Weiss, Beare-Stevenson cutis gyrata, and Antley-Bixler syndromes in various ethnic groups. Methods Thirty-three unrelated...

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Veröffentlicht in:	Pediatric neurology 2014-05, Vol.50 (5), p.482-490
Hauptverfasser:	Nur, Banu G., MD, Pehlivanoğlu, Suray, PhD, Mıhçı, Ercan, MD, Çalışkan, Mualla, PhD, Demir, Durkadın, PhD, Alper, Özgül M., PhD, Kayserili, Hülya, MD, Lüleci, Güven, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Acrocephalosyndactylia - genetics Adolescent Adult Apert syndrome Child Child, Preschool Craniofacial Dysostosis - genetics Craniosynostoses - genetics craniosynostosis Crouzon syndrome DHPLC DNA Mutational Analysis Exons Female Humans Infant Male Mutation Neurology Pediatrics Pfeiffer syndrome Receptor, Fibroblast Growth Factor, Type 2 - genetics Young Adult
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