Literature DB >> 5302130

X-linked recessive inheritance in the Ehlers-Danlos syndrome.

P Beighton.   

Abstract

Two families are described in which the Ehlers-Danlos syndrome is apparently transmitted as an X-linked recessive character. The results of tests for the Xg blood groups and for colour vision show that the locus for the Ehlers-Danlos syndrome is not close to that for the Xg groups nor very close to the locus for deutan colour-blindness.The clinical features of this variety of the Ehlers-Danlos syndrome include considerable hyperextensibility of the skin and a bruising tendency.

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Year:  1968        PMID: 5302130      PMCID: PMC1986313          DOI: 10.1136/bmj.3.5615.409

Source DB:  PubMed          Journal:  Br Med J        ISSN: 0007-1447


  3 in total

1.  MORTALITY IN EHLERS-DANLOS SYNDROME DUE TO SPONTANEOUS RUPTURE OF LARGE ARTERIES.

Authors:  W MCFARLAND; D E FULLER
Journal:  N Engl J Med       Date:  1964-12-17       Impact factor: 91.245

2.  Ehlers-Danlos syndrome and cutis laxa: an account of families in the Oxford area.

Authors:  Z SESTAK
Journal:  Ann Hum Genet       Date:  1962-05       Impact factor: 1.670

3.  Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).

Authors:  A P Barabas
Journal:  Br Med J       Date:  1967-06-03
  3 in total
  8 in total

1.  Physical properties of the skin in the Ehlers-Danlos syndrome.

Authors:  R Grahame; P Beighton
Journal:  Ann Rheum Dis       Date:  1969-05       Impact factor: 19.103

2.  Cardiac abnormalities in the Ehlers-Danlos syndrome.

Authors:  P Beighton
Journal:  Br Heart J       Date:  1969-03

3.  Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients.

Authors:  P Beighton; A Price; J Lord; E Dickson
Journal:  Ann Rheum Dis       Date:  1969-05       Impact factor: 19.103

Review 4.  Collagen metabolism: a comparison of diseases of collagen and diseases affecting collagen.

Authors:  R R Minor
Journal:  Am J Pathol       Date:  1980-01       Impact factor: 4.307

5.  X-chromosomal-linked diseases affecting the eye: status of the heterozygote female.

Authors:  A E Krill
Journal:  Trans Am Ophthalmol Soc       Date:  1969

6.  Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin.

Authors:  S S Shapiro; J Martinez; R R Holburn
Journal:  J Clin Invest       Date:  1969-12       Impact factor: 14.808

Review 7.  GPCR and Alcohol-Related Behaviors in Genetically Modified Mice.

Authors:  Jérémie Neasta; Emmanuel Darcq; Jérôme Jeanblanc; Sebastien Carnicella; Sami Ben Hamida
Journal:  Neurotherapeutics       Date:  2020-01       Impact factor: 7.620

8.  A sex-linked defect in the cross-linking of collagen and elastin associated with the mottled locus in mice.

Authors:  D W Rowe; E B McGoodwin; G R Martin; M D Sussman; D Grahn; B Faris; C Franzblau
Journal:  J Exp Med       Date:  1974-01-01       Impact factor: 14.307

  8 in total

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