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Article

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease.

Pediatric rheumatology online journal - 26 Sept 2017

Zrhidri Abdelali, Amasdl Saadia, Lyahyai Jaber, Elouardi Hanane, Chkirate Bouchra, Raymond Laure, Egéa Grégory, Taoudi Mohamed, El Mouatassim Said, Sefiani Abdelaziz

Abstract excerpt

BACKGROUND: Scleroderma is a multisystem disease, characterized by fibrosis of skin and internal organs, immune dysregulation, and vasculopathy. The etiology of the disease remains unknown, but it is likely multifactorial. However, the genetic basis for this condition is defined by multiple genes that have only modest effect on disease susceptibility. METHODS: Three Moroccan siblings, born from non-consanguineous...

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Identifiers

PMID: 28950892
DOI: 10.1186/s12969-017-0200-2
PMCID: PMC5615433

Genes

GNPTG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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