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Article

Pseudohypoparathyroidism vs. tricho-rhino-phalangeal syndrome: patient reclassification.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Nov 2014

Pereda Arrate, Azriel Sharona, Bonet Mariona, Garin Intza, Gener Blanca, Lecumberri Beatriz, de Nanclares Guiomar Pérez

Abstract excerpt

OBJECTIVES: Given that tricho-rhino-phalangeal syndrome (TRPS) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, brachydactyly and, in some patients, intellectual disability) that lead to their misdiagnosis in some cases, our objective was to identify clinical, biochemical or radiological signs that...

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Source

Identifiers

PMID: 24945424
DOI: 10.1515/jpem-2014-0020

Genes

PTH
GNAS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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