Pulleyn, L J

Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. [electronic resource] - European journal of human genetics : EJHG 1996 - 283-91 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1018-4813

10.1159/000472215 doi


Craniosynostoses--diagnostic imaging
Female
Humans
Infant
Infant, Newborn
Male
Pedigree
Phenotype
Point Mutation
Radiography
Receptor Protein-Tyrosine Kinases--genetics
Receptor, Fibroblast Growth Factor, Type 2
Receptors, Fibroblast Growth Factor--genetics