High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B

Pseudohypoparathyroidism 1B (PHP1B) is caused by maternal epigenetic defects in the imprinted GNAS cluster. PHP1B can follow an autosomal dominant mode of inheritance or occur sporadically (spor-PHP1B). These latter patients present broad methylation changes of two or more differentially methylated...

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Détails bibliographiques
Publié dans:Bone
Auteurs principaux: Colson, Cindy, Decamp, Matthieu, Gruchy, Nicolas, Coudray, Nadia, Ballandonne, Céline, Bracquemart, Claire, Molin, Arnaud, Mittre, Hervé, Takatani, Rieko, Jüppner, Harald, Kottler, Marie-Laure, Richard, Nicolas
Format: Artigo
Langue:Inglês
Publié: 2019
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6637416/
https://ncbi.nlm.nih.gov/pubmed/30905746
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bone.2019.03.023
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