Literature DB >> 4069773

Campomelic dysplasia with sex reversal: morphological and cytogenetic studies of a case.

C T Cooke, M T Mulcahy, G J Cullity, M Watson, P Srague.   

Abstract

Morphological and cytogenetic studies undertaken in a case of sex reversed campomelic dysplasia revealed the presence of primary follicles within the dysgenetic gonads and a familial balanced chromosome translocation t(5;8), a hitherto unreported combination of unusual findings.

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Year:  1985        PMID： 4069773     DOI： 10.3109/00313028509105515

Source DB:  PubMed          Journal:  Pathology        ISSN： 0031-3025            Impact factor:   5.306


  4 in total

1.  Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation.

Authors:  I D Young; J M Zuccollo; E L Maltby; N J Broderick
Journal:  J Med Genet       Date:  1992-04       Impact factor: 6.318

2.  Campomelic dysplasia--an underdiagnosed condition?

Authors:  E K Normann; J C Pedersen; G Stiris; C B van der Hagen
Journal:  Eur J Pediatr       Date:  1993-04       Impact factor: 3.183

3.  A clinical and genetic study of campomelic dysplasia.

Authors:  S Mansour; C M Hall; M E Pembrey; I D Young
Journal:  J Med Genet       Date:  1995-06       Impact factor: 6.318

4.  Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

Authors:  C Kwok; P A Weller; S Guioli; J W Foster; S Mansour; O Zuffardi; H H Punnett; M A Dominguez-Steglich; J D Brook; I D Young
Journal:  Am J Hum Genet       Date:  1995-11       Impact factor: 11.025
  4 in total

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