Literature DB >> 2603728

Spondyloepiphyseal dysplasia tarda in Turner syndrome.

G Massa1, M Vanderschueren-Lodeweyckx.   

Abstract

A girl with short stature is described in whom chromosomal analysis revealed a 45,X/46,XX mosaicism and in whom radiological investigations disclosed the diagnosis of X-linked spondyloepiphyseal dysplasia tarda. This is the first report of the occurrence of X-linked spondyloepiphyseal dysplasia tarda in a child with Turner syndrome.

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Year:  1989        PMID： 2603728     DOI： 10.1111/j.1651-2227.1989.tb11189.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN： 0001-656X


  3 in total

1.  Different patterns of X inactivation in MZ twins discordant for red-green color-vision deficiency.

Authors:  A L Jørgensen; J Philip; W H Raskind; M Matsushita; B Christensen; V Dreyer; A G Motulsky
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

2.  Ayurvedic management of spondyloepiphyseal dysplasia tarda, a rare hereditary disorder.

Authors:  Sarvesh Kumar Singh; Kshipra Rajoria
Journal:  J Ayurveda Integr Med       Date:  2016-11-25

3.  Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.

Authors:  M G Shaikh; L Boyes; H Kingston; R Collins; G T N Besley; B Padmakumar; O Ismayl; I Hughes; C M Hall; C Hellerud; J C Achermann; P E Clayton
Journal:  J Med Genet       Date:  2008-09       Impact factor: 6.318
  3 in total

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