Literature DB >> 1951433

Spondylo-metaphyseal dysplasia Algerian type: confirmation of a new syndrome.

M Rybak1, T P Foley, K Kozlowski.   

Abstract

We report on a further case of a recently described type of spondylo-metaphyseal dysplasia in a 12(10/12)-year-old Polish boy. The original paper described the disorder in five relatives in an Algerian family.

Entities:  

Mesh:

Substances:

Year:  1991        PMID: 1951433     DOI: 10.1002/ajmg.1320400311

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  1 in total

1.  COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type.

Authors:  S Matsubayashi; M Ikema; Y Ninomiya; K Yamaguchi; S Ikegawa; G Nishimura
Journal:  Mol Syndromol       Date:  2013-01-30
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.