C

CALZARI L

Last name: CALZARI L

2016 (v1)

Publication

Metadata-only

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-€"Russell and Beckwith-€"Wiedemann syndromes

Russo S Calzari L Mussa A

BACKGROUND: Multiple (epi)genetic defects affecting the expression of the imprinted genes within the 11p15.5 chromosomal region underlie Silver-Russell (SRS) and Beckwith-Wiedemann (BWS) syndromes. The molecular diagnosis of these opposite growth disorders requires a multi-approach flowchart to disclose known primary and secondary (epi)genetic...

Uploaded on: April 14, 2023