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Article

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

American journal of medical genetics. Part A - 1 Mar 2018

Scala Marcello, Accogli Andrea, De Grandis Elisa, Allegri Anna, Bagowski Christoph P, Shoukier Moneef, Maghnie Mohamad, Capra Valeria

Abstract excerpt

Sheldon-Hall syndrome (SHS) is the most common of the distal arthrogryposes (DAs), a group of disorders characterized by congenital non-progressive contractures. Patients with SHS present with contractures of the limbs and a distinctive triangular facies with prominent nasolabial folds. Calcaneovalgus deformity is frequent, as well as camptodactyly and ulnar deviation. Causative mutations in at least four...

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Source

Identifiers

PMID: 29314551
DOI: 10.1002/ajmg.a.38593

Genes

MYH3
TNNI2
TNNT3
TPM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.PMID 29314551Read ↗

Sheldon-Hall syndrome.Semantic proximity Read ↗

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

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