Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration

Muffels, IJJ; Schene, IF; Rehmann, H; Massink, MPG; van der Wal, MM; Bauder, C; Labeur, M; Armando, NG; Lequin, MH; Houben, ML; Giltay, JC; Haitjema, S; Huisman, A; Vansenne, F; Bluvstein, J; Pappas, J; Shailee, LV; Zarate, YA; Mokry, M; van Haaften, GW; Nieuwenhuis, EES; Refojo, D; van Wijk, F; Fuchs, SA; van Hasselt, PM

van Hasselt, PM (通讯作者),Univ Utrecht, Wilhelmina Childrens Hosp, Dept Metab Dis, Div Pediat,Univ Med Ctr Utrecht, NL-3584 EA Utrecht, Netherlands.

AMERICAN JOURNAL OF HUMAN GENETICS, 2023; 110 (1): 146

Abstract

Neddylation has been implicated in various cellular pathways and in the pathophysiology of numerous diseases. We identified four individuals with bi-a......

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