Pontocerebellar hypoplasia due to bi-allelic variants in MINPP1

Bart Appelhof(Leiden University Medical Center), Rami Abou Jamra(Leipzig University), Julia Hoefele(Duke University), Erin Torti, Anja Heinze(Max Planck Institute for Evolutionary Anthropology), Matias Wagner(Helmholtz Zentrum München), Stefan D. Roosendaal(Amsterdam University Medical Centers), Farrah Rajabi(Boston Children's Hospital), Mohammadreza Dehghani(Shahid Sadoughi University of Medical Sciences and Health Services), Heinrich Sticht(Friedrich-Alexander-Universität Erlangen-Nürnberg), Timo Roser(Ludwig-Maximilians-Universität München), Dagmar Wieczorek(Essen University Hospital), Margarete Koch‐Hogrebe(Klinikum Vest), Henry Houlden(University College London), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Mohammad Yahya Vahidi Mehrjardi(Shahid Sadoughi University of Medical Sciences and Health Services), Frank Baas(The Netherlands Cancer Institute)
European Journal of Human Genetics
November 9, 2020
Cited by 30


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