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X-linked dominant chondrodysplasia punctata is a human gene defect characterized by punctate foci of epiphyseal calcification, cataracts, ichthyosis, and systematized atrophoderma. In a comparative study, the murine X-linked mutant 'bare patches' was found to display strikingly similar skeletal, ocular, and cutaneous anomalies. The human as well as the murine phenotypes occur exclusively in the female sex, apparently because the underlying mutations are lethal for male embryos. In both traits, the cutaneous lesions are arranged in a linear and blotchy pattern reflecting lyonization. The observed similarities constitute strong evidence that the two genes are homologous. The proposed homology is a further example of the evolutionary conservatism of the X-chromosome in mammals.
R Happle, and
R J Phillips, and
A Roessner, and
G Jünemann
January 1983,
Annales de dermatologie et de venereologie,
R Happle, and
R J Phillips, and
A Roessner, and
G Jünemann
January 1991,
Annales de dermatologie et de venereologie,
R Happle, and
R J Phillips, and
A Roessner, and
G Jünemann
April 1980,
Monatsschrift fur Kinderheilkunde,
R Happle, and
R J Phillips, and
A Roessner, and
G Jünemann
April 2006,
The British journal of dermatology,
R Happle, and
R J Phillips, and
A Roessner, and
G Jünemann
July 1998,
American journal of medical genetics,
R Happle, and
R J Phillips, and
A Roessner, and
G Jünemann
November 1979,
Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete,
R Happle, and
R J Phillips, and
A Roessner, and
G Jünemann
September 2017,
Clinical case reports,
R Happle, and
R J Phillips, and
A Roessner, and
G Jünemann
December 1992,
American journal of medical genetics,
R Happle, and
R J Phillips, and
A Roessner, and
G Jünemann
August 1979,
Archives of dermatology,
R Happle, and
R J Phillips, and
A Roessner, and
G Jünemann
October 2003,
The Journal of investigative dermatology,
