Literature DB >> 15346917

Velocardiofacial syndrome presenting as distal arthrogryposis.

Koen Devriendt1, Ann Swillen, Marc Gewillig, Jean-Pierre Fryns, Pierre Moens, Luc De Smet.   

Abstract

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Year:  2004        PMID： 15346917     DOI： 10.1007/s00431-004-1429-6

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  5 in total

1.  A prospective cytogenetic study of 36 cases of DiGeorge syndrome.

Authors:  D I Wilson; I E Cross; J A Goodship; J Brown; P J Scambler; H H Bain; J F Taylor; K Walsh; A Bankier; J Burn
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

2.  Intelligence and psychosocial adjustment in velocardiofacial syndrome: a study of 37 children and adolescents with VCFS.

Authors:  A Swillen; K Devriendt; E Legius; B Eyskens; M Dumoulin; M Gewillig; J P Fryns
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

3.  Skeletal anomalies and deformities in patients with deletions of 22q11.

Authors:  J E Ming; D M McDonald-McGinn; T E Megerian; D A Driscoll; E R Elias; B M Russell; M Irons; B S Emanuel; R I Markowitz; E H Zackai
Journal:  Am J Med Genet       Date:  1997-10-17

Review 4.  Velocardiofacial (Shprintzen) syndrome: an important syndrome for the dysmorphologist to recognise.

Authors:  A H Lipson; D Yuille; M Angel; P G Thompson; J G Vandervoord; E J Beckenham
Journal:  J Med Genet       Date:  1991-09       Impact factor: 6.318

5.  Tetralogy of Fallot associated with chromosome 22q11.2 deletion in adolescents and young adults.

Authors:  K Momma; A Takao; R Matsuoka; Y Imai; A Muto; M Osawa; M Takayama
Journal:  Genet Med       Date:  2001 Jan-Feb       Impact factor: 8.822
  5 in total

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