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

Extreme variability in clinical penetrance for a splice-site Plakophilin-2 mutation in a Bangladeshi family.

Clinical genetics - 1 Nov 2015

Sayeed M Z, Salam M A, Islam A K M Monwarul, Bhuiyan Z A

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 Aged
Share to Arrhythmogenic Right Ventricular Dysplasia
Share to Bangladesh
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Penetrance

Share to Plakophilins

Share to RNA Splice Sites

Source

Identifiers

PMID: 25786693
DOI: 10.1111/cge.12578

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

Extreme variability in clinical penetrance for a splice-site Plakophilin-2 mutation in a Bangladeshi family.PMID 25786693Read ↗

Mutational spectrum and phenotypic variability of Duchenne muscular dystrophy and related disorders in a Bangladeshi population.Semantic proximity Read ↗

Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive phenotypic variability within a Pakistani family.Semantic proximity Read ↗

Pleiotropic Phenotypes Associated With PKP2 VariantsSemantic proximity Read ↗

Genotype-phenotype correlation in 11 Romanian PKU families.Semantic proximity Read ↗

Lamellar ichthyosis in a collodion baby caused by CYP4F22 mutations in a non-consanguineous family outside the Mediterranean.Semantic proximity Read ↗

A Novel Mutation of the Plakophilin-2 Gene in a Child with Early Onset Arrhythmogenic Right Ventricular Cardiomyopathy and Intractable Arrhythmia.Semantic proximity Read ↗

A novel mutation in SLURP1 in patients with mal de Meleda from the Indian subcontinent.Semantic proximity Read ↗

A novel P1PK allele in two Bangladeshi sisters with a history of spontaneous abortion: A4GALT*02N(951C).Semantic proximity Read ↗

Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.Semantic proximity Read ↗

Clinical variability in three Danish patients with dihydropyrimidine dehydrogenase deficiency all homozygous for the same mutation.Semantic proximity Read ↗

A rare frameshift mutation in the AGPAT2 gene in a family from gaza with congenital generalized lipodystrophy.Semantic proximity Read ↗

Clinical variability of mutations in the ABCB11 gene: a case report.Semantic proximity Read ↗

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