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Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroi...

Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroi...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2861643261

Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA

About this item

Full title

Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA

Publisher

US: Oxford University Press

Journal title

The journal of clinical endocrinology and metabolism, 2024-02, Vol.109 (2), p.424-438

Language

English

Formats

Publication information

Publisher

US: Oxford University Press

More information

Scope and Contents

Contents

Abstract
Context
Pseudohypoparathyroidism type IA (PHPIA) is a rare genetic disorder characterized by hormone resistance and a typical phenotype named Albright hereditary osteodystrophy. Unawareness of this rare disease leads to delays in diagnosis.
Objective
The aims of this study were to describe the clinical and molecular characteris...

Alternative Titles

Full title

Clinical and Molecular Characteristics and Long-term Follow-up of Children With Pseudohypoparathyroidism Type IA

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2861643261

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2861643261

Other Identifiers

ISSN

0021-972X

E-ISSN

1945-7197

DOI

10.1210/clinem/dgad524

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