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

A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).

Neuromuscular disorders : NMD - 1 May 2018

Xu Yang, Kang Qing-Lin, Zhang Zhen-Lin

Abstract excerpt

Sheldon-Hall syndrome is the most common type of distal arthrogryposis syndromes, also known as distal arthrogryposis 2B (DA2B). Sheldon-Hall syndrome is caused by mutations in the TPM2, TNNI2, TNNT3 or MYH3 gene and characterized by ulnar deviation, camptodactyly, overlapping fingers and scoliosis from birth. We investigated a Chinese family with multiple members who clinically presented with distal...

Read the complete abstract on PubMed

Topics

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

Share to Arthrogryposis
Share to China
Share to Cytoskeletal Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Association Studies

Share to Genotype

Share to Mutation, Missense

Share to Pedigree

Source

Identifiers

PMID: 29625835
DOI: 10.1016/j.nmd.2018.03.002

Genes

MYH3
TNNI2
TNNT3
TPM2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A MYH3 mutation identified for the first time in a Chinese family with Sheldon-Hall syndrome (DA2B).PMID 29625835Read ↗

Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.Semantic proximity Read ↗

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.Semantic proximity Read ↗

A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus.Semantic proximity Read ↗

First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.Semantic proximity Read ↗

Clinical and Molecular Heterogeneity of MYH3-Related Arthrogryposis with a Novel MYH3 Variant.Semantic proximity Read ↗

A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.Semantic proximity Read ↗

Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.Semantic proximity Read ↗

Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis.Semantic proximity Read ↗

Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.Semantic proximity Read ↗

Sheldon-Hall syndrome.Semantic proximity Read ↗

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental DelaySemantic proximity Read ↗

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?Semantic proximity Read ↗

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