Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand.

BMC research notes - 7 Jun 2016

Brodbeck Michael, Yousif Q, Diener P A, Zweier M, Gruenert J

Abstract excerpt

BACKGROUND: We describe a male with functionally impairing radial deviation of the thumb who presented to us at 24 years of age. Two sclerotic skin lesions had been excised 7 years before because of consecutive skin contracture. Latest radiological examination showed a spotted pattern consistent with osteopoikilosis. CASE PRESENTATION: A corrective osteotomy of the thumb was carried out due to the patients...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to DNA-Binding Proteins
Share to Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Nuclear Proteins

Share to Sequence Homology, Nucleic Acid

Share to Skin Abnormalities

Share to Skin Diseases, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 27267960
DOI: 10.1186/s13104-016-2095-2
PMCID: PMC4895955

Genes

LEMD3

Provenance

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

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand.PMID 27267960Read ↗

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

Buschke-Ollendorff syndrome associated with hypertrophic scar formation: a possible role for LEMD3 mutation.Semantic proximity Read ↗

Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family.Semantic proximity Read ↗

Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis.Semantic proximity Read ↗

Familial cutaneous collagenomas resulting from a novel mutation in LEMD3.Semantic proximity Read ↗

Deactivating Germline Mutations in <i>LEMD3</i> Cause Osteopoikilosis and Buschke-Ollendorff Syndrome, but Not Sporadic MelorheostosisSemantic proximity Read ↗

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

Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature.Semantic proximity Read ↗

A novel mutation in LMX1B gene in a newborn with nail-patella syndrome: Clinical and dermoscopic findings.Semantic proximity Read ↗

Hereditary multiple exostoses: from genetics to clinical syndrome and complications.Semantic proximity Read ↗

A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis.Semantic proximity Read ↗

Classification of dorsal and ventral dimelia in humans.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.