Literature DB >> 5080681

The "campomelic" syndrome. Short life-span dwarfism with respiratory distress, hypotonia, peculiar facies, and multiple skeletal and cartilaginous deformities.

F A Lee, H Isaacs, J Strauss.   

Abstract

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Year:  1972        PMID: 5080681     DOI: 10.1001/archpedi.1972.02110160023002

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


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  11 in total

1.  Exclusion of Sox9 as a candidate for the mouse mutant tail-short.

Authors:  K Uchida; P Koopman; A Mita; S Wakana; E Wright; Y Kikkawa; H Yonekawa; K Moriwaki; T Shiroishi
Journal:  Mamm Genome       Date:  1996-07       Impact factor: 2.957

2.  Acampomelic campomelic dysplasia.

Authors:  R I Macpherson; S A Skinner; A E Donnenfeld
Journal:  Pediatr Radiol       Date:  1989

3.  Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias.

Authors:  H R Wiedemann; W Remagen; H A Hienz; R J Gorlin; P Maroteaux
Journal:  Z Kinderheilkd       Date:  1974

4.  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

5.  Syndromes of congenital bowing of the long bones.

Authors:  K Kozlowski; H O Bützler; F Galatius-Jensen; A Tulloch
Journal:  Pediatr Radiol       Date:  1978-04-10

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.  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

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.  Morphologic studies in the skeletal dysplasias.

Authors:  D O Sillence; W A Horton; D L Rimoin
Journal:  Am J Pathol       Date:  1979-09       Impact factor: 4.307

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