Literature DB >> 4742578

Familial camptomelic dwarfism.

T F Thurmon, E B DeFraites, E E Anderson.   

Abstract

Mesh：

Year:  1973        PMID： 4742578     DOI： 10.1016/s0022-3476(73)80384-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  7 in total

1.  Fine mapping of chromosome 17 translocation breakpoints > or = 900 Kb upstream of SOX9 in acampomelic campomelic dysplasia and a mild, familial skeletal dysplasia.

Authors:  Katherine L Hill-Harfe; Lee Kaplan; Heather J Stalker; Roberto T Zori; Ramona Pop; Gerd Scherer; Margaret R Wallace
Journal:  Am J Hum Genet       Date:  2005-04       Impact factor: 11.025

2.  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

3.  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

4.  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

5.  Campomelic dysplasia: evidence of autosomal dominant inheritance.

Authors:  S A Lynch; M L Gaunt; A M Minford
Journal:  J Med Genet       Date:  1993-08       Impact factor: 6.318

6.  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

7.  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
  7 in total

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