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Article

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

European journal of endocrinology - 1 Apr 2005

Riepe Felix G, Ahrens Wiebke, Krone Nils, Fölster-Holst Regina, Brasch Jochen, Sippell Wolfgang G, Hiort Olaf, Partsch Carl-Joachim

Abstract excerpt

OBJECTIVE: To clarify the molecular defect for the clinical finding of congenital hypothyroidism combined with the manifestation of calcinosis cutis in infancy. CASE REPORT: The male patient presented with moderately elevated blood thyrotropin levels at neonatal screening combined with slightly decreased plasma thyroxine and tri-iodothyronine concentrations, necessitating thyroid hormone substitution 2 weeks...

Read the complete abstract on PubMed

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Share to Calcinosis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Fibrous Dysplasia, Polyostotic

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Hypothyroidism

Share to Infant, Newborn

Share to Pseudohypoparathyroidism

Source

Identifiers

PMID: 15817905
DOI: 10.1530/eje.1.01879

Genes

GNAS
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene.PMID 15817905Read ↗

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