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Article

[Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete - 1 Oct 2006

Fölster-Holst R, Riepe F G, Ahrens W, Möller M, Brasch J, Partsch C-J, Hiort O, Sippell W G

Abstract excerpt

Albright hereditary osteodystrophy (AHO) is characterized by a symptom complex including short stature, brachymetacarpia, obesity, round facies, cutaneous osteomas, and mental retardation. AHO is caused by mutations in the GNAS-gene localized on chromosome 20 encoding for Gsalpha protein, a signal transducer of endocrine pathways. Therefore, AHO is often associated with endocrinopathy such as...

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Source

Identifiers

PMID: 16270203
DOI: 10.1007/s00105-005-1040-4

Genes

GNAS

Provenance

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.

Related research

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Click a neighbor to travelStep 1 · 12 closest

[Calcinosis cutis in Albright hereditary osteodystrophy: pseudohypoparathyroidism type Ia].PMID 16270203Read ↗

Different AHO phenotype in a Chinese family with a novel GNAS missense variant: a case report.Semantic proximity Read ↗

Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.Semantic proximity Read ↗

Different AHO phenotype in a Chinese family with a novel GNAS missense mutation: a case reportSemantic proximity Read ↗

Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.Semantic proximity Read ↗

Follow-up Findings in a Turkish Girl with Pseudohypoparathyroidism Type Ia Caused by a Novel Heterozygous Mutation in the GNAS Gene.Semantic proximity Read ↗

Diagnosis and approach of pseudohypoparathyroidism type 1A and related disorders during long term follow-up: a case report.Semantic proximity Read ↗

A new heterozygous mutation (L338N) in the human Gsalpha (GNAS1) gene as a cause for congenital hypothyroidism in Albright's hereditary osteodystrophy.Semantic proximity Read ↗

Albright's hereditary osteodystrophy and pseudohypoparathyroidism.Semantic proximity Read ↗

Evidence of hormone resistance in a pseudo-pseudohypoparathyroidism patient with a novel paternal mutation in GNAS.Semantic proximity Read ↗

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

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

Progressive osseous heteroplasia, as an isolated entity or overlapping with Albright hereditary osteodystrophy.Semantic proximity Read ↗

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