Literature DB >> 6641002

Greig cephalopolysyndactyly: report of 13 affected individuals in three families.

M Baraitser, R M Winter, E M Brett.   

Abstract

Three families with Greig cephalopolysyndactyly are reported, the relationship with pre-axial polydactyly type IV and the acrocallosal syndrome is discussed.

Entities:  

Mesh：

Year:  1983        PMID： 6641002     DOI： 10.1111/j.1399-0004.1983.tb00080.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  12 in total

1.  Pallister-Hall syndrome.

Authors:  L G Biesecker; J M Graham
Journal:  J Med Genet       Date:  1996-07       Impact factor: 6.318

2.  Craniofrontonasal dysplasia.

Authors:  I D Young
Journal:  J Med Genet       Date:  1987-04       Impact factor: 6.318

3.  Acrocephalopolysyndactyly, pentalogy of Fallot, and hypoacusis in a patient with a de novo reciprocal translocation involving the short arm of chromosome 1 and the long arm of chromosome 18: 46,XX,t(1;18)(p31;q11).

Authors:  J Ward; E Vieto; D Lee; G Arosemena
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

4.  The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.

Authors:  U Radhakrishna; D Bornholdt; H S Scott; U C Patel; C Rossier; H Engel; A Bottani; D Chandal; J L Blouin; J V Solanki; K H Grzeschik; S E Antonarakis
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

5.  Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations.

Authors:  Jennifer J Johnston; Isabelle Olivos-Glander; Christina Killoran; Emma Elson; Joyce T Turner; Kathryn F Peters; Margaret H Abbott; David J Aughton; Arthur S Aylsworth; Michael J Bamshad; Carol Booth; Cynthia J Curry; Albert David; Mary Beth Dinulos; David B Flannery; Michelle A Fox; John M Graham; Dorothy K Grange; Alan E Guttmacher; Mark C Hannibal; Wolfram Henn; Raoul C M Hennekam; Lewis B Holmes; H Eugene Hoyme; Kathleen A Leppig; Angela E Lin; Patrick Macleod; David K Manchester; Carlo Marcelis; Laura Mazzanti; Emma McCann; Marie T McDonald; Nancy J Mendelsohn; John B Moeschler; Billur Moghaddam; Giovanni Neri; Ruth Newbury-Ecob; Roberta A Pagon; John A Phillips; Laurie S Sadler; Joan M Stoler; David Tilstra; Catherine M Walsh Vockley; Elaine H Zackai; Touran M Zadeh; Louise Brueton; Graeme Charles M Black; Leslie G Biesecker
Journal:  Am J Hum Genet       Date:  2005-02-28       Impact factor: 11.025

Review 6.  What you can learn from one gene: GLI3.

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

7.  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

8.  Greig syndrome associated with an interstitial deletion of 7p: confirmation of the localization of Greig syndrome to 7p13.

Authors:  A L Pettigrew; F Greenberg; C T Caskey; D H Ledbetter
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

9.  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

10.  Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Authors:  Jane A Hurst; Dagan Jenkins; Pradeep C Vasudevan; Maria Kirchhoff; Flemming Skovby; Claudine Rieubland; Sabina Gallati; Olaf Rittinger; Peter M Kroisel; David Johnson; Leslie G Biesecker; Andrew O M Wilkie
Journal:  Eur J Hum Genet       Date:  2011-02-16       Impact factor: 4.246
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