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Article

Prevalence of Chiari malformation type 1 is increased in pseudohypoparathyroidism type 1A and associated with aberrant bone development.

PloS one - 1 Jan 2023

Krishnan Neetu, McMullan Patrick, Yang Qingfen, Buscarello Alexzandrea N, Germain-Lee Emily L

Abstract excerpt

BACKGROUND: Albright hereditary osteodystrophy (AHO) is caused by heterozygous inactivating mutations in GNAS. Patients with maternally-inherited mutations develop pseudohypoparathyroidism type 1A (PHP1A) with multi-hormone resistance and aberrant craniofacial and skeletal development among other abnormalities. Chiari malformation type 1 (CM1), a condition in which brain tissue extends into the spinal canal when...

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Identifiers

PMID: 36662765
DOI: 10.1371/journal.pone.0280463
PMCID: PMC9858345

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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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