Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.
Li, Dong
Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization. [electronic resource] - The Journal of clinical endocrinology and metabolism Sep 2014 - E1774-83 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1945-7197
10.1210/jc.2014-1029 doi
Adolescent
Adult
Bone Development--genetics
Child
Child, Preschool
Family Health
Female
GTP-Binding Protein alpha Subunits--genetics
Genome-Wide Association Study
Germ-Line Mutation--genetics
Heterozygote
Humans
Hypercalciuria--genetics
Hypocalcemia--genetics
Hypoparathyroidism--congenital
Male
Middle Aged
Pedigree
Phenotype
Young Adult
Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization. [electronic resource] - The Journal of clinical endocrinology and metabolism Sep 2014 - E1774-83 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1945-7197
10.1210/jc.2014-1029 doi
Adolescent
Adult
Bone Development--genetics
Child
Child, Preschool
Family Health
Female
GTP-Binding Protein alpha Subunits--genetics
Genome-Wide Association Study
Germ-Line Mutation--genetics
Heterozygote
Humans
Hypercalciuria--genetics
Hypocalcemia--genetics
Hypoparathyroidism--congenital
Male
Middle Aged
Pedigree
Phenotype
Young Adult