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Article

Genotype-Phenotype Correlation in Fibrous Dysplasia/McCune-Albright Syndrome.

The Journal of clinical endocrinology and metabolism - 23 Apr 2021

Zhadina Maria, Roszko Kelly L, Geels Raya E S, de Castro Luis F, Collins Michael T, Boyce Alison M

Abstract excerpt

CONTEXT: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare bone and endocrine disorder resulting in fractures, pain, and disability. There are no targeted or effective therapies to alter the disease course. Disease arises from somatic gain-of-function variants at the R201 codon in GNAS, replacing arginine by either cysteine or histidine. The relative pathogenicity of these variants is not fully...

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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: 33512531
DOI: 10.1210/clinem/dgab053
PMCID: PMC8522305

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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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