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.
Molecular Genetics & Genomic Medicine
Ritelli, Marco M; Cinquina, Valeria V; Venturini, Marina M; Colombi, Marina M
Publication Date: 2020-10
Variant appearance in text: COL1A2: 1295G>A; Arg432Gln; rs139446305