Literature DB >> 561769

Camptomelic dwarfism. A genetically determined mesenchymal disorder combined with sex reversal.

M L Hovmöller, A Osuna, O Eklöf, K Fredga, A Hjerpe, J Linsten, M Ritzen, V Stanescu, N Svenningsen.   

Abstract

Mesh：

Year:  1977        PMID： 561769     DOI： 10.1111/j.1601-5223.1977.tb01212.x

Source DB:  PubMed          Journal:  Hereditas        ISSN： 0018-0661            Impact factor:   3.271


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  10 in total

1.  Radiology and histopathology of the bent limbs in campomelic dysplasia: implications in the aetiology of the disease and review of theories.

Authors:  U E Pazzaglia; G Beluffi
Journal:  Pediatr Radiol       Date:  1987

2.  Sex-reversed XY females with campomelic dysplasia are H-Y negative.

Authors:  F D Bricarelli; M Fraccaro; J Lindsten; U Müller; P Baggio; L D Carbone; A Hjerpe; F Lindgren; A Mayerová; H Ringertz; E M Ritzén; D C Rovetta; C Sicchero; U Wolf
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

3.  Case report 230: camptomelic syndrome.

Authors:  E J Wagner; P J Haney
Journal:  Skeletal Radiol       Date:  1983       Impact factor: 2.199

4.  Familial congenital bowing with short thick bones and metaphyseal changes, a distinct entity. Report of the clinical and radiological findings in two siblings.

Authors:  E Rezza; G Iannaccone; D Lendvai
Journal:  Pediatr Radiol       Date:  1984

5.  XY gonadal dysgenesis: genetic heterogeneity based upon clinical observations, H-Y antigen status and segregation analysis.

Authors:  J L Simpson; N Blagowidow; A O Martin
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  XY Sex-reversed campomelia.

Authors:  R S Trompeter; V Shrubb; J M Heaton; A C Berry
Journal:  Eur J Pediatr       Date:  1981-09       Impact factor: 3.183

7.  Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia.

Authors:  V M Wunderle; R Critcher; N Hastie; P N Goodfellow; A Schedl
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-01       Impact factor: 11.205

8.  Absence of H-Y antigen in an XY female with campomelic dysplasia.

Authors:  S M Puck; F P Haseltine; U Francke
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

9.  Congenital bowing of the long bones. A review and phenotype analysis of 13 undiagnosed cases.

Authors:  B D Hall; J Spranger
Journal:  Eur J Pediatr       Date:  1980-03       Impact factor: 3.183

10.  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
  10 in total

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