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Patterson-Lowry rhizomelic dysplasia: report of two new patients

Piergiorgio Franceschini1, D Licata1, A Guala2

  • 1Dipartimento di Scienze Pediatriche e dell'Adolescenza, Servizio di Genetica Clinica, Università degli Studi, Torino, Italy.

American Journal of Medical Genetics. Part A
|April 23, 2004
PubMed

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Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...