Molecular Definition of Pseudohypoparathyroidism Variants

Pseudohypoparathyroidism (PHP) and pseudopseudohypoparathyroidism (PPHP) are caused by mutations and/or epigenetic changes at the complex GNAS locus on chromosome 20q13.3 that undergoes parent-specific methylation changes at several differentially methylated regions (DMRs). GNAS encodes the alpha-su...

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Detalles Bibliográficos
Autor principal: Jüppner, Harald
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Mini-Reviews
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8118362/
https://www.ncbi.nlm.nih.gov/pubmed/33529330
http://dx.doi.org/10.1210/clinem/dgab060

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8118362/
https://www.ncbi.nlm.nih.gov/pubmed/33529330
http://dx.doi.org/10.1210/clinem/dgab060

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