Literature DB >> 7486832

Autosomal recessive omodysplasia.

C Stoll1, A Pennerath, P Poirat.   

Abstract

The authors report on a new case of omodysplasia with severe shortness of lower limbs and with first cousin parents. This condition is a second form of omodysplasia. Recessive transmission is confirmed by consanguinity.

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Mesh：

Year:  1995        PMID： 7486832

Source DB:  PubMed          Journal:  Ann Genet        ISSN： 0003-3995


  2 in total

Review 1.  Recessive omodysplasia: five new cases and review of the literature.

Authors:  Nursel H Elçioglu; Karl H Gustavson; Andrew O M Wilkie; Memune Yüksel-Apak; Jürgen W Spranger
Journal:  Pediatr Radiol       Date:  2003-10-18

2.  Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.

Authors:  Allan Bayat; Morton Dunø; Maria Kirchhoff; Finn S Jørgensen; Gen Nishimura; Hanne B Hove
Journal:  Mol Syndromol       Date:  2020-03-07
  2 in total

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