Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia
Alice Costantini(Karolinska Institutet), Outi Mäkitie(University of Helsinki), Woo Yeong Chung(Inje University), Alan J. Warren(Wellcome/MRC Cambridge Stem Cell Institute), Antonella Forlino(University of Pavia), Gen Nishimura(Musashino University), Céline Huber(Délégation Paris 5), Tae‐Joon Cho(Seoul National University Children's Hospital), Jessica J. Alm(Karolinska University Hospital), Francesca Tonelli(University of Pavia), Valentina Daponte(Emory University), Nadi Kirova(Karolinska Institutet), Yves Sznajer, Tuomas Näreoja(Karolinska Institutet), Ok-Hwa Kim(Korea University Medical Center), Jung Yun Bae(Pusan National University Yangsan Hospital), Yong-Uk Kwon(Inje University Busan Paik Hospital), Shengjiang Tan(Wellcome/MRC Cambridge Stem Cell Institute), Valérie Cormier‐Daire(Hôpital Necker-Enfants Malades), Anh Nhi Tran(Karolinska Institutet), Helena Valta(University of Helsinki)
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