Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.
Simonds
William F
WF
Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892-1752, USA. wfs@helix.nih.gov
James-Newton
Laura A
LA
Agarwal
Sunita K
SK
Yang
Bing
B
Skarulis
Monica C
MC
Hendy
Geoffrey N
GN
Marx
Stephen J
SJ
D000328:Adult; D002118:Calcium; D002648:Child; D005260:Female; D016147:Genes, Tumor Suppressor; D018095:Germ-Line Mutation; D006801:Humans; D006961:Hyperparathyroidism / Q000145:classification / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D007573:Jaw Neoplasms / Q000150:complications / Q000235:genetics; D008297:Male; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis / Q000235:genetics; D020125:Mutation, Missense; D009363:Neoplasm Proteins / Q000235:genetics; D010375:Pedigree; D011518:Proto-Oncogene Proteins; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface / Q000235:genetics
C105373:MEN1 protein, human; D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D044169:Receptors, Calcium-Sensing; D011956:Receptors, Cell Surface; D002118:Calcium