Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

Saved in:
Bibliographic Details
Published inJournal of Bone and Mineral Research Vol. 36; pp. 283 - 297
Main Authors 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
Format Journal Article
LanguageJapanese
Published Oxford University Press (OUP) 11.09.2020
Subjects
Animals
Biological Variation, Population
CHOPCHOP
CRISPR-CAS9
ENCODES
GENE
General medicine, internal medicine and other clinical medicine
Humans
INCOMPLETE PENETRANCE
MUTATIONS
Neoplasm Proteins
Osteochondrodysplasias
Pedigree
Ribosomal Proteins
Ribosomopathy
RPL13
SKELETAL
Spine
Spondyloepimetaphyseal dysplasia
Variable expressivity
WEB TOOL
Zebrafish
Online AccessGet full text
ISSN0884-0431
1523-4681
DOI10.17863/cam.57871

Cover

More Information
ISSN:0884-0431
1523-4681
DOI:10.17863/cam.57871