Identification of a novel familial FGF16 mutation in metacarpal 4-5 fusion

Clin Dysmorphol. 2014 Jul;23(3):95-97. doi: 10.1097/MCD.0000000000000043.

Authors

Benedict Jones¹, Helen Byers, J Stewart Watson, William G Newman

Affiliation

¹ Manchester Centre for Genomic Medicine, University of Manchester Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust Department of Surgery, University Hospital South Manchester, Wythenshawe, Manchester, UK.

PMID: 24878828
DOI: 10.1097/MCD.0000000000000043

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Child
DNA Mutational Analysis
Fibroblast Growth Factors / genetics*
Gene Duplication
Genetic Association Studies
Hand Deformities, Congenital / diagnostic imaging*
Hand Deformities, Congenital / genetics
Hemizygote
Humans
Male
Metacarpal Bones / abnormalities*
Metacarpal Bones / diagnostic imaging
Pedigree
Radiography
Young Adult

Substances

FGF16 protein, human
Fibroblast Growth Factors

Supplementary concepts

Metacarpal 4 5 Fusion