Literature DB >> 7438495

The camptomelic syndrome in two female siblings.

H J Mellows, J Pryse-Davies, M J Bennett, C O Carter.   

Abstract

A patient is reported whose only two pregnancies resulted in phenotypically and genotypically female infants with camptomelic syndrome of the long-limbed variety. Both infants died within a few minutes of birth.

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Year:  1980        PMID： 7438495     DOI： 10.1111/j.1399-0004.1980.tb01024.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 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.  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

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
  3 in total

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