A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D

by Viola Alesi, Francesca Sessini, Silvia Genovese, Giusy Calvieri, Ester Sallicandro, Laura Ciocca, Maura Mingoia, Antonio Novelli, Paolo Moi
Published 2021-02-01

Homozygous <i>HESX1</i> and <i>COL1A1</i> Gene Variants in a Boy with Growth Hormone Deficiency and Early Onset Osteoporosis

by Viola Alesi, Maria Lisa Dentici, Silvia Genovese, Sara Loddo, Emanuele Bellacchio, Valeria Orlando, Silvia Di Tommaso, Giorgia Catino, Chiara Calacci, Giusy Calvieri, Daniele Pompili, Graziamaria Ubertini, Bruno Dallapiccola, Rossella Capolino, Antonio Novelli
Published 2021-01-01