Article
SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.
Human molecular genetics - 15 Jun 2009
Cliffe Simon T, Kramer Jamie M, Hussain Khalid, Robben Joris H, de Jong Eiko K, de Brouwer Arjan P, Nibbeling Esther, Kamsteeg Erik-Jan, Wong Melanie, Prendiville Julie, James Chela, Padidela Raja, Becknell Charlie, van Bokhoven Hans, Deen Peter M T, Hennekam Raoul C M, Lindeman Robert, Schenck Annette, Roscioli Tony, Buckley Michael F
Abstract excerpt
Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome is a recently described autosomal recessive disorder associated with predominantly antibody negative, insulin-dependent diabetes mellitus. In order to identify the genetic basis of PHID and study its relationship with glucose metabolism, we performed homozygosity mapping in five unrelated families followed by candidate gene...
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