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. gareth.baynam@health.wa.gov.au

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