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

Morgane Stichelbout, Anne Dieux-Coeslier, Elodie Clouqueur, Corinne Collet, Florence Petit

Journal: American journal of medical genetics. Part A 2016;170(3):785-9

PMID: 26573129

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Abstract

Address: Service d' Anatomie-Pathologie, Centre de Biologie Pathologie, CHU Lille, France.; Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, France.; Service de Gynécologie-Obstétrique, Hôpital Jeanne de Flandre, CHU Lille, France.; Service de Biochimie et Biologie Moléculaire, Hôpital Lariboisière, CHU Paris, France.

DOI: 10.1002/ajmg.a.37473

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MeSH Terms: Alleles, Amino Acid Substitution, Bone Diseases, Developmental, Bone and Bones, Codon, Female, Humans, Mutation, Phenotype, Receptor, Fibroblast Growth Factor, Type 2, Ultrasonography, Prenatal