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