Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyr...
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism
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Publisher
Washington, DC: Endocrine Society
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Language
English
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Publisher
Washington, DC: Endocrine Society
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Scope and Contents
Contents
ContextFamilial isolated hypoparathyroidism (FIH) is a genetically heterogeneous disorder due to mutations of the calcium-sensing receptor (CASR), glial cells missing-2 (GCM2), guanine nucleotide binding protein α11 (GNA11), or parathyroid hormone (PTH) genes. Thus far, only four cases with homozygous and two cases with heterozygous mutations in th...
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Full title
Autosomal Dominant PTH Gene Signal Sequence Mutation in a Family With Familial Isolated Hypoparathyroidism
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Record Identifier
TN_cdi_proquest_miscellaneous_1942704793
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1942704793
Other Identifiers
ISSN
0021-972X
E-ISSN
1945-7197
DOI
10.1210/jc.2017-00250
