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Article

Expanding the clinical spectrum of COL2A1 related disorders by a mass like phenotype.

Scientific reports - 16 Mar 2022

Demal Till Joscha, Scholz Tasja, Schüler Helke, Olfe Jakob, Fröhlich Anja, Speth Fabian, von Kodolitsch Yskert, Mir Thomas S, Reichenspurner Hermann, Kubisch Christian, Hempel Maja, Rosenberger Georg

Abstract excerpt

MASS phenotype is a connective tissue disorder clinically overlapping with Marfan syndrome and caused by pathogenic variants in FBN1. We report four patients from three families presenting with a MASS-like phenotype consisting of tall stature, arachnodactyly, spinal deformations, dural ectasia, pectus and/or feet deformations, osteoarthritis, and/or high arched palate. Gene panel sequencing was negative for FBN1...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 35296718
DOI: 10.1038/s41598-022-08476-7
PMCID: PMC8927422

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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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