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Case report: An infantile lethal form of Albright hereditary osteodystrophy due to a GNAS mutation
Germline loss‐of‐function GNAS mutations are associated with multiple phenotypes, depending on the parental origin of the mutant allele. Here, we describe an infantile lethal form of atypical pseudohypoparathyroidism type 1a or 1c with severe Albright's hereditary osteodystrophy phenotype, unde...
Tallennettuna:
| Julkaisussa: | Clin Case Rep |
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| Päätekijät: | , , , , , , , , |
| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
John Wiley and Sons Inc.
2018
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6186887/ https://ncbi.nlm.nih.gov/pubmed/30349702 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1739 |
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