Literature DB >> 830452

Sex-linked chondrodysplasia punctata?

R Happle, H H Matthiass, E Macher.   

Abstract

Widespread atrophic lesions and pigmentary disturbances of the skin distributed in a linear or whorled pattern, are seen in some patients with chondrodysplasia punctata of the Conradi-Hünermann type. Arguments are presented in favor of the hypothesis that this association of anomalies constitutes a distinct genetic disorder, which is inherited as an X-linked dominant trait lethal in hemizygous males.

Entities:  

Mesh：

Year:  1977        PMID： 830452     DOI： 10.1111/j.1399-0004.1977.tb01281.x

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


  7 in total

1.  Exclusion mapping of the X-linked dominant chondrodysplasia punctata/ichthyosis/cataract/short stature (Happle) syndrome: possible involvement of an unstable pre-mutation.

Authors:  H Traupe; D Müller; D Atherton; D C Kalter; F P Cremers; B A van Oost; H H Ropers
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

2.  Heterozygous expression of X-linked chondrodysplasia punctata. Complex chromosome aberration including deletion of MIC2 and STS.

Authors:  D Wöhrle; G Barbi; W Schulz; P Steinbach
Journal:  Hum Genet       Date:  1990-12       Impact factor: 4.132

3.  Unusual radiographic manifestations of chondrodysplasia punctata.

Authors:  J J Lawrence; A E Schlesinger; K Kozlowski; A K Poznanski; L Bacha; G L Dreyer; A Barylak; D O Sillence; K Rager
Journal:  Skeletal Radiol       Date:  1989       Impact factor: 2.199

Review 4.  Lyonization and the lines of Blaschko.

Authors:  R Happle
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  X-linked dominant chondrodysplasia punctata. Review of literature and report of a case.

Authors:  R Happle
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

6.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

Review 7.  Chondrodysplasia punctata: case report and literature review of patients with heart lesions.

Authors:  D T Fourie
Journal:  Pediatr Cardiol       Date:  1995 Sep-Oct       Impact factor: 1.655
  7 in total

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