Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: Phenotypic and molecular characterization

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 9, 2014, Pages E1774-E1783

  Li, Dong ^a   Opas, Evan E ^a   Tuluc, Florin ^a   Metzger, Daniel L ^c,d   Hou, Cuiping ^a   Hakonarson, Hakon ^a,b   Levine, Michael A ^a,b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c BC CHILDREN S HOSPITAL   (Canada)

^d UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITRIOL; CALCIUM; CALCIUM ION; CALCIUM SENSING RECEPTOR; DNA; GUANINE NUCLEOTIDE BINDING PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN ALPHA SUBUNIT; MAGNESIUM; MITOGEN ACTIVATED PROTEIN KINASE KINASE; PARATHYROID HORMONE; PHOSPHORUS; GNA11 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT HYPOPARATHYROIDISM; BIOACCUMULATION; BONE DEVELOPMENT; CALCIUM CELL LEVEL; CASR GENE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EC50; EMBRYO; ENZYME ACTIVATION; EXTRACELLULAR CALCIUM; FAMILY; FEMALE; GAIN OF FUNCTION MUTATION; GCM2 GENE; GENE; GENE SEQUENCE; GERMLINE MUTATION; GNA11 GENE; HETEROZYGOSITY; HUMAN; HUMAN CELL; HYPERCALCIURIA; HYPOPARATHYROIDISM; INTRACELLULAR SIGNALING; MAGNESIUM BLOOD LEVEL; MALE; MOLECULAR GENETICS; MULTIGENERATIONAL FAMILY; PARATHYROID CELL; PHENOTYPE; PHOSPHATE BLOOD LEVEL; PROTEIN EXPRESSION; PTH GENE; SCHOOL CHILD; SEQUENCE ANALYSIS; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT; FAMILY HEALTH; GENETIC ASSOCIATION; GENETICS; HETEROZYGOTE; HYPOCALCEMIA; MIDDLE AGED; PEDIGREE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; BONE DEVELOPMENT; CHILD; CHILD, PRESCHOOL; FAMILY HEALTH; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GERM-LINE MUTATION; GTP-BINDING PROTEIN ALPHA SUBUNITS; HETEROZYGOTE; HUMANS; HYPERCALCIURIA; HYPOCALCEMIA; HYPOPARATHYROIDISM; MALE; MIDDLE AGED; PEDIGREE; PHENOTYPE; YOUNG ADULT;

EID: 84907213108     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-1029     Document Type: Article

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