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

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, pect...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8927422/ https://www.ncbi.nlm.nih.gov/pubmed/35296718 http://dx.doi.org/10.1038/s41598-022-08476-7

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