Literature DB >> 199388

A family with syndactyly type II (synpolydactyly).

M A Ridler, R Laxova, K Dewhurst, P Saldańa-Garcia.   

Abstract

Syndactyly Type II is reported in eight members of a family in four generations. Affected individuals show two distinctive patterns of variation in the expression of the gene. Distortion of dermatoglyphic patterns is associated with the severe but not the mild manifestation of the malformation. The diagnostic significance of minimal features of the condition is discussed. Linkage data suggest that loci for Syndactyly II and for blood-group antigens ABO, MNSs, P, Rh and Kell are not closely linked.

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Year:  1977        PMID： 199388     DOI： 10.1111/j.1399-0004.1977.tb00929.x

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


  4 in total

1.  A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data.

Authors:  B S Sayli; A N Akarsu; U Sayli; O Akhan; S Ceylaner; M Sarfarazi
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

2.  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

3.  Type II syndactyly or synpolydactyly.

Authors:  P Merlob; M Grunebaum
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

Review 4.  Type II familial synpolydactyly: report on two families with an emphasis on variations of expression.

Authors:  Mohammad M Al-Qattan
Journal:  Eur J Hum Genet       Date:  2010-08-18       Impact factor: 4.246
  4 in total

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