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

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literature

13 Feb 2015

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 Congenital Ear and Nasal Anomalies
Share to Genomic variations and chromosomal abnormalities
Share to Vascular Malformations and Hemangiomas

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 25682901
DOI: 10.1016/j.ejmg.2014.12.008

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

Variable expression pattern in Donnai-Barrow syndrome: Report of two novel LRP2 mutations and review of the literaturePMID 25682901Read ↗

Clinical presentation of DFNB1.Semantic proximity Read ↗

The clinical presentation of DFNB2.Semantic proximity Read ↗

Clinical Spectrum of PRKAG2 Syndrome.Semantic proximity Read ↗

Clinical phenotypes of MAGEL2 mutations and deletions.Semantic proximity Read ↗

Phenotypic Variability in PRKCD: a Review of the LiteratureSemantic proximity Read ↗

IRF2BPL gene variants: One new case.Semantic proximity Read ↗

Multiple Endocrine Neoplasia Type 4: Novel CDNK1B variant and immune anomalies.Semantic proximity Read ↗

Molecular alterations in a case of bilateral adrenal neuroblastoma.Semantic proximity Read ↗

Leprechaunism / Donohue syndrome / insulin receptor gene mutations: a syndrome delineation story from clinicopathological description to molecular understandingSemantic proximity Read ↗

NRAS mutation in a central conducting lymphatic anomaly and PPFIBP1::ROS1 fusion in a Gorham-stout disease patient.Semantic proximity Read ↗

Clinical features of DFNA5.Semantic proximity Read ↗

Report on 3 patients with 12p duplication including GRIN2BSemantic proximity Read ↗

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