Article
Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Pediatric neurology - 1 May 2014
Nur Banu G, Pehlivanoğlu Suray, Mıhçı Ercan, Calışkan Mualla, Demir Durkadın, Alper Ozgül M, Kayserili Hülya, Lüleci Güven
Abstract excerpt
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 Turkish patients (12 with Apert syndrome, 14 with Crouzon syndrome, six with Pfeiffer syndrome, and one with...
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