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ea0049ep305 | Calcium & Vitamin D metabolism | ECE2017

Pseudohypoparathyroidism (PHP) and GNAS gene mutations – clinical spectrum from PHP type 1a to pseudopseudohypoparathyroidism

Saavedra Ana , Rodrigues Elisabete , Cunha Filipe , Leao Miguel , Carvalho Davide

Introduction: Pseudohypoparathyroidism (PHP) refers to a heterogeneous group of disorders that have in common end-organ unresponsiveness to parathyroid hormone (PTH). The most frequent form, PHP type 1, results from different genetic/epigenetic changes in the GNAS gene.Case 1: Woman, 25 years-old, sent to Endocrinology from Genetics consultation after her daughter had been diagnosed with PHP type 1a (heterozygous pathogenic variant at exon 13 of...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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