Taxon:

Human

Gene:

"Progressive diaphyseal dysplasia"

Chromosome:

19

Location:

19q13.1

Description:

Progressive diaphyseal dysplasia (Engelmann disease). Imprinting and/or paternal-specific repeat expansion has been proposed to explain phenotypic variability and possible anticipation in a three generation family (Saraiva JM, 1997).

Category:

Other

Record:

65

Last Modified 4/30/2010

Links:

OMIM  


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