Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene

Ulster Medical Journal

Volumn 70, Issue 1, 2001, Pages 47-50

  Hughes, Jennifer L ^b   Nevin, Norman C ^a   Morrison, Patrick J ^b  

^a ROYAL GROUP OF HOSPITALS TRUST   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

FGFR3 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 3; PROTEIN TYROSINE KINASE;

ARTICLE; CASE REPORT; CHROMOSOME 4; CRANIOFACIAL SYNOSTOSIS; FEMALE; GENETICS; HUMAN; INFANT; MULTIPLE MALFORMATION SYNDROME; MUTATION; PEDIGREE;

ABNORMALITIES, MULTIPLE; CHROMOSOMES, HUMAN, PAIR 4; CRANIOSYNOSTOSES; FEMALE; HUMANS; INFANT; MUTATION; PEDIGREE; PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR;

EID: 0035350270     PISSN: 00416193     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Bellus G A, Gaudenz K, Zackai E H, Clarke L A, Szabo J, Francomano C A, Muenke M. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 1996; 14: 174-6.
2. Reardon W, Wilkes D, Rutland P, Pulleyn L J, Malcolm S, Dean J C S, Evans R D, Jones B M, Hayward R, Hall C M, Nevin N C, Baraitser M, Winter R M. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J Med Genet 1997; 34: 632-6.
3. Robin N H, Scott J A, Cohen A R, Goldstein J A. Non penetrance in FGFR3-associated coronal synostosis syndrome. Am J Med Genet 1998; 80: 296-7.
4. Graham J M, Braddock S R, Mortier G R, Lachman R, Van Dop C, Jabs E W. Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene. Am J Med Genet 1996; 77: 322-9.
5. Moloney D M, Wall S A, Ashworth G J, Oldridge M, Glass I A, Francomano C A, Muenke M, Wilkie A O M. Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet 1997; 349: 1059-62.