[SAMD9 mutation in normophosphatemic familial tumoral calcinosis].
Dereure
O
O
Service de Dermatologie, Hôpital Saint Eloi, 80, avenue Augustin Fliche, 34295 Montpellier Cedex 5, France. o-dereure@chu-montpellier.fr
D002114:Calcinosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D009154:Mutation; D010710:Phosphates / Q000378:metabolism; D011506:Proteins / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*
D047908:Intracellular Signaling Peptides and Proteins; D010710:Phosphates; D011506:Proteins; C514443:SAMD9 protein, human