FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants
Author:
Affiliation:
1. Department of Neurosurgery; Necker-Enfants Malades Hospital - Centre de référence des dysostoses craniofaciales; Paris France
2. Department of Biochemistry and Molecular Biology; Inserm 1132, Lariboisière Hospital; Paris France
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference5 articles.
1. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis;Kan;Am J Hum Genet,2002
2. De novo alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome;Oldridge;Am J Hum Genet,1999
3. Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome;Li;Nat Genet,1995
4. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome;Reardon;Nat Genet,1994
5. Expression analysis of an FGFR2 IIIc 5′ splice site mutation 1084+3A->G;Kan;J Med Genet,2004
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1. Secondary Suture Fusion after Primary Correction of Nonsyndromic Craniosynostosis: Recognition of the Problem and Identification of Risk Factors;Plastic & Reconstructive Surgery;2020-02
2. Hydrocephalus and Chiari malformation pathophysiology in FGFR2-related faciocraniosynostosis: A review;Neurochirurgie;2019-11
3. Crouzon syndrome mouse model exhibits cartilage hyperproliferation and defective segmentation in the developing trachea;Science China Life Sciences;2019-08-26
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