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Pseudohypoparathyroidism type 1B caused by methylation changes at the GNAS complex locus

Pseudohypoparathyroidism type 1B (PHP1B) consists of a heterogeneous group of disorders characterised by resistance to parathyroid hormone (PTH). There are several different PHP1B subtypes that are all associated with methylation changes at GNAS. These epigenetic changes are caused by maternal delet...

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Detalhes bibliográficos
Publicado no:BMJ Case Rep
Main Authors: Poradosu, Sabrina, Bravenboer, Bert, Takatani, Rieko, Jüppner, Harald
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4885331/
https://ncbi.nlm.nih.gov/pubmed/27170606
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-214673
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