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

Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome.

JAMA dermatology - 1 Jul 2016

Kratzsch Johanna, Mitter Diana, Ziemer Mirjana, Kohlhase Jürgen, Voth Harald

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Biopsy, Needle
Share to Immunohistochemistry
Share to Membrane Proteins
Share to Nuclear Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Point Mutation

Share to Rare Diseases

Share to Severity of Illness Index

Share to Skin Diseases, Genetic

Source

Identifiers

PMID: 27007781
DOI: 10.1001/jamadermatol.2016.0350

Genes

LEMD3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome.PMID 27007781Read ↗

[Buschke-Ollendorff syndrome: inactivating mutation of the LEMD3 gene].Semantic proximity Read ↗

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

RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome.Semantic proximity Read ↗

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

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.Semantic proximity Read ↗

Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.Semantic proximity Read ↗

3-M syndrome: evolution of the phenotype over time.Semantic proximity Read ↗

Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia.Semantic proximity Read ↗

A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.Semantic proximity Read ↗

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

De novo missense variants in LMBRD2 are associated with developmental and motor delays, brain structure abnormalities and dysmorphic features.Semantic proximity Read ↗

Identification of a novel missence mutation in FGFR3 gene in an Iranian family with LADD syndrome by Next-Generation Sequencing.Semantic proximity Read ↗

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