Gene: [09q/HOMG] hypomagnesemia, seconadry hypocalcemia; [HSH ]
COM |
Familial hypomagnesemia with secondary hypocalcemia was thought to be an X-linked recessive disorder (Chery-1994). Walder-1997 demonstrated that the disorder is an autosomal recessive and is determined by mutation in a gene located on 9q12-q22.2." |
REF |
ABR,LOC "Chery M &: Hum Genet, 93, 587-591, 1994 LOC,CYG,PAT "Meyer M &: Rev Fr Endocr Clin, 19, 101-108, 1978 LIN,LOC "Walder RY &: Hum Mol Genet, 6, 1491-1497, 1997 |
KEY |
bone, horm, mtbd, ion |
CLA |
unknown, basic |
LOC |
09 q12-22.2 |
MIM |
MIM: 602014 |
SYN |
HSH |