Literature DB >> 223435

Greig cephalopolysyndactyly syndrome.

P A Duncan, R M Klein, P L Wilmot, L R Shapiro.   

Abstract

Based on the family presented and five others previously described, it can be concluded that the Grieg cephalopolysyndactyly syndrome is a fully penetrant autosomal dominant disease consisting of four variably expressed malformations: postaxial polydactyly (type B), preaxial polydactyly, syndactyly, and minor craniofacial abnormalities. This entity can be differentiated from other craniofacial-digital syndromes because of the absence of mental retardation, craniosynostosis, and brachydactyly.

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Year:  1979        PMID: 223435     DOI: 10.1001/archpedi.1979.02130080058010

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


  6 in total

1.  Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?

Authors:  F Majewski; H Stöss; T Goecke; H Kemperdick
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

Review 2.  What you can learn from one gene: GLI3.

Authors:  L G Biesecker
Journal:  J Med Genet       Date:  2006-06       Impact factor: 6.318

3.  Two Indian families with Greig cephalopolysyndactyly with non-syndromic phenotype.

Authors:  Sidharth Kumar Sethi; Deepak Goyal; Sumaira Khalil; Dinesh Kumar Yadav
Journal:  Eur J Pediatr       Date:  2013-01-19       Impact factor: 3.183

4.  The spectrum of hand and foot malformations in patients with Greig cephalopolysyndactyly.

Authors:  Philippe Debeer; Koen Devriendt; Luc De Smet; Thomy Deravel; Antonio Gonzalez-Meneses; Karl-Heinz Grzeschik; Jean-Pierre Fryns
Journal:  J Child Orthop       Date:  2007-05-10       Impact factor: 1.548

Review 5.  The Greig cephalopolysyndactyly syndrome.

Authors:  Leslie G Biesecker
Journal:  Orphanet J Rare Dis       Date:  2008-04-24       Impact factor: 4.123

Review 6.  GLI3: a mediator of genetic diseases, development and cancer.

Authors:  Stephan J Matissek; Sherine F Elsawa
Journal:  Cell Commun Signal       Date:  2020-04-03       Impact factor: 7.525

  6 in total

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