Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 9, 1999, Pages 3036-3040

  Stock, John L ^a,d   Brown, Rosalind S ^a   Baron, Jeffrey ^b   Coderre, James A ^a   Mancilla, Edna ^b   De Luca, Francesco ^b   Ray, Kausik ^c   Mericq, Maria Veronica ^b  

^a University of Massachusetts   (United States)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

^d ELI LILLY AND COMPANY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION; CALCIUM SENSING RECEPTOR; INOSITOL PHOSPHATE; LEUCINE; MUTANT PROTEIN; VALINE;

AGED; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; DISEASE ASSOCIATION; DISEASE COURSE; EXTRACELLULAR CALCIUM; FEMALE; GENE MUTATION; HUMAN; HYPOPARATHYROIDISM; OSTEOARTHRITIS; PRIORITY JOURNAL; SHORT STATURE;

EID: 0033305294     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.9.3036     Document Type: Article

References (20)

1. An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type 1 assigned chromosome 21
2. Molecular genetics of hypoparathyroidism
3. Familial isolated hypoparathyroidism: A molecular genetic analysis of 8 families with 23 affected persons
4. A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism
5. Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies
6. Mutation of the signal peptide-encoded region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism
7. 2+ sensing receptor from bovine parathyroid
8. 2+ sensing receptor gene mutation
9. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor
10. 2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism
11. 2+-sensing receptor
12. 2+ and maximal signal transduction
13. 2+-sensing receptor
14. Expression of an extracellular calcium-sensing receptor in human and mouse bone marrow cells
15. 2+ on nodule formation in cultured chondrogenic cells
16. Physical growth: National Center for Health Statistics percentiles
17. 2+-sensing receptor gene cause familial hypocalcemic hypercalcemia and neonatal severe hyperparathyroidism
18. Detecting single base substitutions as heteroduplex polymorphisms
19. Fluorescence detection in automated DNA sequence analysis
20. Reversible Parkinsonism and asymptomatic hypocalcemia with basal ganglia calcifications from hypoparathyroidism 26 years after thyroid surgery