Associated Papers
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
Lin M et al.
Molecular Genetics & Genomic Medicine, 2019
31318164 (PubMed )
Supplement: MGG3-7-e843-s002.doc
Ectrodactyly and Lethal Pulmonary Acinar Dysplasia Associated with Homozygous FGFR2 Mutations Identified by Exome Sequencing.
Barnett CP et al.
Human Mutation, 2016
A new case of bent bone dysplasia--FGFR2 type and review of the literature.
Stichelbout M et al.
American Journal of Medical Genetics. Part A, 2016
Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene.
Collet C et al.
Clinical Genetics, 2014
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