Craniofacial syndromes: no such thing as a single gene disease

Comment

J J Mulvihill. Nat Genet. 1995 Feb.

. 1995 Feb;9(2):101-3.

doi: 10.1038/ng0295-101.

Erratum in

No abstract available

FGFR2 mutations in Pfeiffer syndrome.
Lajeunie E, Ma HW, Bonaventure J, Munnich A, Le Merrer M, Renier D. Lajeunie E, et al. Nat Genet. 1995 Feb;9(2):108. doi: 10.1038/ng0295-108. Nat Genet. 1995. PMID: 7719333 No abstract available.
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, Hayward RD, David DJ, Pulleyn LJ, Rutland P, et al. Wilkie AO, et al. Nat Genet. 1995 Feb;9(2):165-72. doi: 10.1038/ng0295-165. Nat Genet. 1995. PMID: 7719344
Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
Rutland P, Pulleyn LJ, Reardon W, Baraitser M, Hayward R, Jones B, Malcolm S, Winter RM, Oldridge M, Slaney SF, et al. Rutland P, et al. Nat Genet. 1995 Feb;9(2):173-6. doi: 10.1038/ng0295-173. Nat Genet. 1995. PMID: 7719345