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

Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B.

Clinical genetics - 1 Dec 2006

Drera B, Zoppi N, Barlati S, Colombi M

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 Arthrogryposis
Share to Base Sequence
Share to Codon, Nonsense
Share to Italy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Phenotype

Share to Sequence Analysis, DNA

Share to Troponin I

Source

Identifiers

PMID: 17101001
DOI: 10.1111/j.1399-0004.2006.00713.x

Genes

TNNI2

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

Recurrence of the p.R156X TNNI2 mutation in distal arthrogryposis type 2B.PMID 17101001Read ↗

A TNNI2 mutation in a family with distal arthrogryposis type 2B.Semantic proximity Read ↗

Heterogenic Genetic Background of Distal Arthrogryposis—Review of the Literature and Case ReportSemantic proximity Read ↗

Extending the phenotype and an ECEL1 gene mutation in distal arthrogryposis type 5D.Semantic proximity Read ↗

Molecular prenatal diagnosis for hereditary distal arthrogryposis type 2B.Semantic proximity Read ↗

Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation.Semantic proximity Read ↗

A new distal arthrogryposis syndrome characterized by plantar flexion contractures.Semantic proximity Read ↗

Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant.Semantic proximity Read ↗

Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy.Semantic proximity Read ↗

A recurrent missense mutation in the KRT16 gene causing pachyonychia congenita in a patient.Semantic proximity Read ↗

Recurrent de novo c.316G>A mutation in NIPA1 hotspot.Semantic proximity Read ↗

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother.Semantic proximity Read ↗

Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.Semantic proximity Read ↗

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