A c.1019A > G mutation in FGFR2, which predicts p.Tyr340Cys, in a lethally malformed fetus with Pfeiffer syndrome and multiple pterygia

Am J Med Genet A. 2008 Sep 1;146A(17):2301-3. doi: 10.1002/ajmg.a.32443.

Authors

Gareth Baynam¹, Nicholas Smith, Jack Goldblatt

Affiliation

¹ Genetic Services of Western Australia, Princess Margaret Hospital for Children and King Edward Memorial Hospital for Women, School of Paediatrics and Child Health, University of WA, Perth, Western Australia, Australia. [email protected]

PMID: 18671283
DOI: 10.1002/ajmg.a.32443

No abstract available

MeSH terms

Acrocephalosyndactylia / embryology
Acrocephalosyndactylia / genetics*
Female
Fetal Death / genetics*
Fetal Diseases / genetics
Humans
Point Mutation*
Pregnancy
Receptor, Fibroblast Growth Factor, Type 2 / genetics*

Substances

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