ArticleMolecular genetics & genomic medicine2020

Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing.

Marco Ritelli et al.PubMed ↗Full text ↗Publisher ↗

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