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Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism
CONTEXT: Most cases of autosomal dominant isolated hypoparathyroidism are caused by gain-of-function mutations in CASR or GNA11 or dominant negative mutations in GCM2 or PTH. OBJECTIVE: To identify the genetic etiology for dominantly transmitted isolated hypoparathyroidism in two multigenerational f...
Shranjeno v:
| izdano v: | J Clin Endocrinol Metab |
|---|---|
| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Endocrine Society
2018
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6194809/ https://ncbi.nlm.nih.gov/pubmed/30137364 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2018-01260 |
| Oznake: |
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