Literature DB >> 1404293

The acrocallosal syndrome and Greig syndrome are not allelic disorders.

L A Brueton1, K A Chotai, L van Herwerden, A Schinzel, R M Winter.   

Abstract

Acrocallosal syndrome is an autosomal recessive form of polysyndactyly associated with mental retardation and agenesis of the corpus callosum. There have been suggestions that it is allelic to the Greig cephalopolysyndactyly syndrome. Linkage analysis, using flanking markers, shows this suggestion is unlikely to be correct.

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Year:  1992        PMID： 1404293      PMCID： PMC1016094          DOI： 10.1136/jmg.29.9.635

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  25 in total

1.  The acrocallosal syndrome in sisters.

Authors:  A Schinzel; U Kaufmann
Journal:  Clin Genet       Date:  1986-11       Impact factor: 4.438

2.  Schinzel acrocallosal syndrome: a variant example of the Greig syndrome?

Authors:  E Legius; J P Fryns; P Casaer; M Boel; E Eggermont
Journal:  Ann Genet       Date:  1985

3.  "A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity". Addendum.

Authors:  A P Feinberg; B Vogelstein
Journal:  Anal Biochem       Date:  1984-02       Impact factor: 3.365

4.  A familial reciprocal translocation t(3;7) (p21.1;p13) associated with the Greig polysyndactyly-craniofacial anomalies syndrome.

Authors:  N Tommerup; F Nielsen
Journal:  Am J Med Genet       Date:  1983-11

5.  The acrocallosal syndrome.

Authors:  M M Nelson; A J Thomson
Journal:  Am J Med Genet       Date:  1982-06

6.  Four patients including two sisters with the acrocallosal syndrome (agenesis of the corpus callosum in combination with preaxial hexadactyly).

Authors:  A Schinzel
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

7.  Duplication of hands and feet, multiple joint dislocations, absence of corpus callosum and hypsarrhythmia: acrocallosal syndrome?

Authors:  A Sanchis; L Cerveró; A Martínez; C Valverde
Journal:  Am J Med Genet       Date:  1985-01

8.  Chromosomal localisation of a developmental gene in man: direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13.

Authors:  L Brueton; S M Huson; R M Winter; R Williamson
Journal:  Am J Med Genet       Date:  1988-12

9.  Greig cephalopolysyndactyly syndrome: a possible mouse homologue (Xt-extra toes).

Authors:  R M Winter; S M Huson
Journal:  Am J Med Genet       Date:  1988-12

10.  The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

Authors:  A Schinzel
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318
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  2 in total

Review 1.  What you can learn from one gene: GLI3.

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

2.  Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature.

Authors:  Aysegül Ibisler; Ute Hehr; Andre Barth; Margarete Koch; Jörg T Epplen; Sabine Hoffjan
Journal:  Mol Syndromol       Date:  2015-10-07
  2 in total

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