Condition: Hypomagnesemia 1, Intestinal


rs121912625 in TRPM6 gene and Hypomagnesemia 1, Intestinal PMID 14976260 2004 Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia.

PMID 12032568 2002 Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

PMID 23942199 2014 New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.

PMID 16107578 2005 Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.

PMID 26813946 2016 Against all odds: blended phenotypes of three single-gene defects.