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Article

Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene.

Clinical endocrinology - 1 Mar 2016

Lemos Manuel C, Christie Paul T, Rodrigues Dírcea, Thakker Rajesh V

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26401884
DOI: 10.1111/cen.12953
PMCID: PMC4950054

Genes

GNAS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

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Pseudohypoparathyroidism type 1a due to a novel mutation in the GNAS gene.PMID 26401884Read ↗

Pseudohypoparathyroidism type 1a caused by a GNAS gene mutation: over 40 years without a proper diagnosis.Semantic proximity Read ↗

A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus.Semantic proximity Read ↗

A Novel GNAS Mutation in a Patient with Ia Pseudohypoparathyroidism (iPPSD2) Phenotype.Semantic proximity Read ↗

Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report.Semantic proximity Read ↗

Identification of a novel GNAS mutation in a family with pseudohypoparathyroidism type 1A.Semantic proximity Read ↗

A novel mutation in pseudohypoparathyroidism type 1a in a Chinese woman and her son with hypocalcaemia.Semantic proximity Read ↗

A novel mutation in a case of pseudohypoparathyroidism type Ia.Semantic proximity Read ↗

[Pseudohypoparathyroidism and GNAS gene defects: clinical evaluation and molecular analysis in 20 children].Semantic proximity Read ↗

A sporadic case of pseudohypoparathyroidism type 1 and idiopathic primary adrenal insufficiency associated with a novel mutation in the GNAS1 gene.Semantic proximity Read ↗

[Pseudohypoparathyroidism type Ia - a novel mutation].Semantic proximity Read ↗

An update on the clinical and molecular characteristics of pseudohypoparathyroidism.Semantic proximity Read ↗

A novel GNAS mutation inherited from probable maternal mosaicism causes two siblings with pseudohypoparathyroidism type 1A.Semantic proximity Read ↗

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