New variants in COL5A1 gene among Polish patients with Ehlers-Danlos syndrome – analysis of nine cases

Our study is the first <i>COL5A1</i> gene molecular investigation conducted among cEDS patients from Central Eastern Europe. Besides new <i>COL5A1</i> variant findings, we gained molecular confirmation of clinical diagnosis of cEDS. In some cases, specific and adequate evaluation and classification of EDS patients based only on clinical features, may be difficult.