Homozygous splice site variant affecting the first von Willebrand factor A domain of COL12A1 in a patient with myopathic Ehlers-Danlos syndrome

Myopathic Ehlers-Danlos syndrome (mEDS) is a subtype of EDS that is caused by abnormalities in COL12A1. Up-to-date, 24 patients from 15 families with mEDS have been reported, with 14 families showing inheritance in an autosomal dominant manner and one family in an autosomal recessive manner. We enco...

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Veröffentlicht in:	American journal of medical genetics. Part A 2023-10, Vol.191 (10), p.2631-2639
Hauptverfasser:	Furuhata-Yoshimura, Megumi, Yamaguchi, Tomomi, Izu, Yayoi, Kosho, Tomoki
Format:	Artikel
Sprache:	eng
Schlagworte:	Ehlers-Danlos syndrome Genotypes Isoforms Patients Phenotypes Scoliosis Torticollis Von Willebrand factor
Online-Zugang:	Volltext
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