Crouzon Syndrome
What's New
Last Posted: Mar 09, 2023
- FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome.
Lin Ying, et al. Molecular medicine reports 2017 0 (5) 5841-5846 - A Pilot Study of Identification Genetic Background of Craniosynostosis Cases.
Atli Emine Ikbal, et al. The Journal of craniofacial surgery 2020 0 (3) 1059-1062 - Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
Lajeunie Elisabeth, et al. European journal of human genetics : EJHG 2006 0 (3) 289-98 - FGFR2 mutations among Thai children with Crouzon and Apert syndromes.
Shotelersuk Vorasuk, et al. The Journal of craniofacial surgery 2003 0 (1) 101-4; discussion 105-7 - Crouzon syndrome: Genetic and intervention review.
Al-Namnam N M et al. Journal of oral biology and craniofacial research 9(1) 37-39 - Apert and Crouzon syndromes-Cognitive development, brain abnormalities, and molecular aspects.
Fernandes Marilyse B L, et al. American journal of medical genetics. Part A 2016 3 - Skull base morphology in fibroblast growth factor receptor type 2-related faciocraniosynostosis: a descriptive analysis.
Coll Guillaume, et al. Neurosurgery 2015 5 (5) 571-83; discussion 583 - Beare-Stevenson syndrome: two new patients, including a novel finding of tracheal cartilaginous sleeve.
Wenger Tara L, et al. American journal of medical genetics. Part A 2015 4 (4) 852-7 - Clinicogenetic study of Turkish patients with syndromic craniosynostosis and literature review.
Nur Banu G, et al. Pediatric neurology 2014 5 (5) 482-90 - Mutational identification of fibroblast growth factor receptor 1 and fibroblast growth factor receptor 2 genes in craniosynostosis in Indian population.
Pandey Rajeev Kumar, et al. Indian journal of human genetics 2013 10 (4) 449-53 - Crouzon syndrome
From NCATS Genetic and Rare Diseases Information Center - Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Kan Shih-hsin, et al. American journal of human genetics 2002 2 (2) 472-86
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- Page last reviewed:Feb 1, 2024
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