Literature DB >> 11428324

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

J Hughes1, N C Nevin, P J Morrison.   

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Year:  2001        PMID: 11428324      PMCID: PMC2449219     

Source DB:  PubMed          Journal:  Ulster Med J        ISSN: 0041-6193


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  5 in total

1.  Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.

Authors:  W Reardon; D Wilkes; P Rutland; L J Pulleyn; S Malcolm; J C Dean; R D Evans; B M Jones; R Hayward; C M Hall; N C Nevin; M Baraister; R M Winter
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  Nonpenetrance in FGFR3-associated coronal synostosis syndrome.

Authors:  N H Robin; J A Scott; A R Cohen; J A Goldstein
Journal:  Am J Med Genet       Date:  1998-11-16

3.  Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.

Authors:  J M Graham; S R Braddock; G R Mortier; R Lachman; C Van Dop; E W Jabs
Journal:  Am J Med Genet       Date:  1998-05-26

4.  Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.

Authors:  D M Moloney; S A Wall; G J Ashworth; M Oldridge; I A Glass; C A Francomano; M Muenke; A O Wilkie
Journal:  Lancet       Date:  1997-04-12       Impact factor: 79.321

5.  Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.

Authors:  G A Bellus; K Gaudenz; E H Zackai; L A Clarke; J Szabo; C A Francomano; M Muenke
Journal:  Nat Genet       Date:  1996-10       Impact factor: 38.330

  5 in total

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