Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia

Autor: Alice Costantini, Jessica J. Alm, Francesca Tonelli, Helena Valta, Céline Huber, Anh N. Tran, Valentina Daponte, Nadi Kirova, Yong-Uk Kwon, Jung Yun Bae, Woo Yeong Chung, Shengjiang Tan, Yves Sznajer, Gen Nishimura, Tuomas Näreoja, Alan J. Warren, Valérie Cormier-Daire, Ok-Hwa Kim, Antonella Forlino, Tae-Joon Cho, Outi Mäkitie
Jazyk: angličtina
Rok vydání: 2020
Předmět:
Zdroj: Bone Reports, Vol 13, Iss , Pp 100647- (2020)
Druh dokumentu: article
ISSN: 2352-1872
DOI: 10.1016/j.bonr.2020.100647
Databáze: Directory of Open Access Journals