A new case of bent bone dysplasia--FGFR2 type and review of the literature

Am J Med Genet A. 2016 Mar;170(3):785-9. doi: 10.1002/ajmg.a.37473. Epub 2015 Nov 17.

Authors

Morgane Stichelbout¹, Anne Dieux-Coeslier², Elodie Clouqueur³, Corinne Collet⁴, Florence Petit²

Affiliations

¹ Service d' Anatomie-Pathologie, Centre de Biologie Pathologie, CHU Lille, France.
² Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, France.
³ Service de Gynécologie-Obstétrique, Hôpital Jeanne de Flandre, CHU Lille, France.
⁴ Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, CHU Paris, France.

PMID: 26573129
DOI: 10.1002/ajmg.a.37473

No abstract available

Keywords: FGFR2; bent bone dysplasia syndrome; raine syndrome.

Publication types

Case Reports
Review

MeSH terms

Alleles
Amino Acid Substitution
Bone Diseases, Developmental / diagnosis*
Bone Diseases, Developmental / genetics*
Bone and Bones / diagnostic imaging
Bone and Bones / pathology
Codon
Female
Humans
Mutation*
Phenotype
Receptor, Fibroblast Growth Factor, Type 2 / genetics*
Ultrasonography, Prenatal

Substances

Codon
Receptor, Fibroblast Growth Factor, Type 2