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Article

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

American journal of human genetics - 1 Nov 2007

Simpson M A, Hsu R, Keir L S, Hao J, Sivapalan G, Ernst L M, Zackai E H, Al-Gazali L I, Hulskamp G, Kingston H M, Prescott T E, Ion A, Patton M A, Murday V, George A, Crosby A H

Abstract excerpt

The generation and homeostasis of bone tissue throughout development and maturity is controlled by the carefully balanced processes of bone formation and resorption. Disruption of this balance can give rise to a broad range of skeletal pathologies. Lethal osteosclerotic bone dysplasia (or, Raine syndrome) is an autosomal recessive disorder characterized by generalized osteosclerosis with periosteal bone formation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17924334
DOI: 10.1086/522240
PMCID: PMC2265657

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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.

Related research

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Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.PMID 17924334Read ↗

Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia.Semantic proximity Read ↗

An Uncommon Case of Hypophosphataemia-Non-Lethal Raine Syndrome With Novel FAM20C Variant: Expanding the Phenotypic Spectrum.Semantic proximity Read ↗

Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.Semantic proximity Read ↗

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.Semantic proximity Read ↗

Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.Semantic proximity Read ↗

Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660)Semantic proximity Read ↗

Inactivation of a Novel FGF23 Regulator, FAM20C, Leads to Hypophosphatemic Rickets in MiceSemantic proximity Read ↗

Hypophosphatemic osteomalacia and bone sclerosis caused by a novel homozygous mutation of the FAM20C gene in an elderly man with a mild variant of Raine syndrome.Semantic proximity Read ↗

Mutant Fam20c knock-in mice recapitulate both lethal and non-lethal human Raine Syndrome.Semantic proximity Read ↗

Raine syndrome: Prenatally identified severe craniofacial phenotype with multisuture synostosis and brain abnormalities associated with variants in FAM20C.Semantic proximity Read ↗

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.Semantic proximity Read ↗

FAM20C Overview: Classic and Novel Targets, Pathogenic Variants and Raine Syndrome Phenotypes.Semantic proximity Read ↗

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