Condition: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
rs137853086
in
GALNT3
gene and
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
PMID 15687324
2005 A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.
PMID 15133511
2004 Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.