The postnatal features of bent bone dysplasia-FGFR2 type

Clin Dysmorphol. 2014 Jan;23(1):8-11. doi: 10.1097/MCD.0000000000000022.

Authors

Richard H Scott¹, Cathy Meaney, Lucy Jenkins, Alistair Calder, Jane A Hurst

Affiliation

¹ North East Thames Regional Genetics Service, Great Ormond Street Hospital Clinical and Molecular Genetics Unit, Institute of Child Health Department of Radiology, Great Ormond Street Hospital, London, UK.

PMID: 24300289
DOI: 10.1097/MCD.0000000000000022

No abstract available

Publication types

Case Reports

MeSH terms

Bone Diseases, Developmental / genetics*
Bone Diseases, Developmental / pathology
Craniofacial Abnormalities / genetics*
Craniofacial Abnormalities / pathology
Humans
Infant
Infant, Newborn
Receptor, Fibroblast Growth Factor, Type 2 / genetics*

Substances

FGFR2 protein, human
Receptor, Fibroblast Growth Factor, Type 2