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Paternal Uniparental Isodisomy of the Entire Chromosome 20 as a Molecular Cause of Pseudohypoparathyroidism Type Ib (PHP-Ib)
Pseudohypoparathyoridism type Ib (PHP-Ib) typically defines the presence of end-organ resistance to parathyroid hormone in the absence of Albright's hereditary osteodystrophy. Patients affected by this disorder present with imprinting defects in the complex GNAS locus. Microdeletions within STX...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2010
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3039090/ https://ncbi.nlm.nih.gov/pubmed/20965295 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2010.10.168 |
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