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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Bibliografske podrobnosti
izdano v:Bone
Main Authors: 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
Jezik:Inglês
Izdano: 2019
Teme:
Article
Online dostop: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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