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Article

Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.

European journal of human genetics : EJHG - 1 Dec 2016

Carapito Raphael, Goldenberg Alice, Paul Nicodème, Pichot Angélique, David Albert, Hamel Antoine, Dumant-Forest Clémentine, Leroux Julien, Ory Benjamin, Isidor Bertrand, Bahram Seiamak

Abstract excerpt

Spondylocarpotarsal synostosis syndrome (SCT) is a rare Mendelian disorder (OMIM #272460) characterized by prenatal vertebral fusion, scoliosis, short stature and carpal and tarsal synostosis. SCT is typically known as an autosomal recessive disease caused by variants in the FLNB gene. The genetic basis of the rarer cases of vertical transmissions remains unknown. In two independent families with symptoms related...

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Source

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Identifiers

PMID: 27381093
DOI: 10.1038/ejhg.2016.84
PMCID: PMC5117933

Genes

MYH3
SCT
FLNB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome.PMID 27381093Read ↗

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Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.Semantic proximity Read ↗

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