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

Author:

Reardon W,Wilkes D,Rutland P,Pulleyn L J,Malcolm S,Dean J C,Evans R D,Jones B M,Hayward R,Hall C M,Nevin N C,Baraister M,Winter R M

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference26 articles.

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2. The London Dysmorphology Datamutation in lane 3, his unaffected parents in lanes I and 2 3 Bbaarsaei.tsOexrfoMr, d: BOoxwfeonr-dBrUanviveerrysiMt, y PSraelsdsa;Winter, R.M.; Baraitser, M.;J Med Genet; Pitfalls respect to diagnosis and counsellinl g in patients of genetic counselling in Pfeiffer's syndrome,1980

3. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon mental ostosis risetpaarrdtatoifonthneotclrienliacatledstpoectthr(ue cmrcanmriaobnsoysnty-hn syndrome phenotypes;Rutland, P.; Pulleyn, U.; Reardon, W.;Nat Genet,1995

4. A matter ofreading English. AmJYMed Genet not a guide to identification of pEatients with this underlying mutation. Fourthly five of our R1e9a9r6d; o6n3: W5,03W-i4n.ter RM;MMJr, Cohen;Genet; Saethre-Chotzen syndrome,1994

5. Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p2l.2;Reardon, W.; McManus, S.P.; Summers, D.; Winter, R.M.;Am J Med Genet,1993

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