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Article

Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.

Archives of dermatology - 1 Jan 2010

Yadegari Michelle, Whyte Michael P, Mumm Steven, Phelps Robert G, Shanske Alan, Totty William G, Cohen Steven R

Abstract excerpt

BACKGROUND: Buschke-Ollendorff syndrome (BOS), an autosomal dominant disorder, features small, acquired, asymptomatic, symmetrical foci of osteosclerosis detected radiographically in epimetaphyseal bone (osteopoikilosis) (OPK) together with connective tissue nevi or juvenile elastomas. Heterozygo...

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Identifiers

PMID: 20083694
DOI: 10.1001/archdermatol.2009.320

Genes

LEMD3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20083694-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.PMID 20083694Read ↗

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Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.Semantic proximity Read ↗

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