Mosaicism for GNAS methylation defects associated with pseudohypoparathyroidism type 1B arose in early post-zygotic phases

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作者
Francesca Marta Elli
Paolo Bordogna
Maura Arosio
Anna Spada
Giovanna Mantovani
机构
[1] University of Milan,Endocrinology Unit, Department of Clinical Sciences and Community Health
[2] Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico,Endocrinology and Metabolic Diseases Unit
来源
Clinical Epigenetics | 2018年 / 10卷
关键词
GNAS; Imprinting; Mosaicism; Pseudohypoparathyroidism; Albright hereditary osteodystrophy; PTH resistance; Epigenetics; Methylation defects;
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