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Article

A novel missense mutation in SCYL1BP1 produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations.

American journal of medical genetics. Part A - 1 Oct 2009

Al-Dosari Mohammed, Alkuraya Fowzan S

Abstract excerpt

Effect of aging on decreased skin elasticity and bone mass is well known. Geroderma osteodysplastica (GO) is a very rare autosomal recessive disorder that recapitulates these two phenotypes at a much younger age. Using homozygosity mapping and linkage analysis in four Saudi families we have ident...

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PMID: 19681135
DOI: 10.1002/ajmg.a.32996

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19681135-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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