作者
Eduardo Fernández-Rebollo, Beatriz Lecumberri, Sonia Gaztambide, Lorea Martinez-Indart, Guiomar Perez de Nanclares, Luis Castaño, Spanish PHP Group
发表日期
2013/5/1
期刊
The Journal of Clinical Endocrinology & Metabolism
卷号
98
期号
5
页码范围
E996-E1006
出版商
Oxford University Press
简介
Context
Recent advances in genetics and epigenetics have revealed an overlap between molecular and clinical features of pseudohypoparathyroidism (PHP) subtypes, broadening the previous spectrum of PHP genotype-phenotype correlations and indicating limitations of the current classification of the disease.
Objectives
The aim of the study was to screen patients with clinical diagnoses of PHP type I or pseudo-PHP for underlying molecular defects and explore possible correlations between molecular findings and clinical features.
Patients and Methods
We investigated the GNAS locus at the molecular level in 72 affected patients (46 women and 26 men) from 56 nonrelated families. Clinical data were obtained for 63 of these patients (38 women and 25 men).
Results
The molecular analysis showed that 35 patients carried structural …
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E Fernández-Rebollo, B Lecumberri, S Gaztambide… - The Journal of Clinical Endocrinology & Metabolism, 2013