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Article

Spinal Stenosis with Paraparesis in a Korean Boy with Albright's Hereditary Osteodystrophy: Identification of a Novel Nonsense Mutation in the GNAS.

Annals of clinical and laboratory science - 1 Jan 2015

Lee Sang Heon, Mun Seung Hyeon, Cho Sung Yoon, Kim Yeo Ju, Jin Dong-Kyu, Ki Chang-Seok, Lee Ji-Eun

Abstract excerpt

Children with Albright's hereditary osteodystrophy (AHO) suffering from spinal cord compression are rarely reported worldwide. The association of compressive myelopathy with AHO is not still well known. AHO is a rare heterogeneous group of inherited disorders and results from the GNAS mutation. AHO manifests in two different phenotypes, pseudohypoparathyroidism type Ia (PHP-Ia) and pseudopsedohypoparthyroidim...

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Identifiers

PMID: 26116601

Genes

GNAS

Variants

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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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