A new phenotype of Fabry disease with intermediate severity between the classical form and the cardiac variant.
Germain
D P
DP
Clinical Genetics Unit, Hôpital Européen Georges Pompidou, Paris, France. dominique.germain@hop.egp.ap-hop-paris.fr
D000328:Adult; D009202:Cardiomyopathies / Q000209:etiology*; D000795:Fabry Disease / Q000145:classification / Q000150:complications* / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype; D000519:alpha-Galactosidase / Q000235:genetics
D000519:alpha-Galactosidase