Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.

Journal: American Journal of Human Genetics

Published: 2020-03-13

DOI: 10.1016/j.ajhg.2020.02.014

Affiliations: 9

Authors: 17

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Institutions Share
Murdoch Childrens Research Institute (MCRI), Australia 0.29
IRCCS Bambino Gesù Children's Hospital, Italy 0.24
Department of Paediatrics, UniMelb, Australia 0.17
Victorian Clinical Genetics Services (VCGS), MCRI, Australia 0.11
Department of Neurology, RCH, Australia 0.06
Department of Sciences for the Promotion of Health and Maternal and Child Care "G. D'Alessandro", UNIPA, Italy 0.06
Baylor College of Medicine (BCM), United States of America (USA) 0.03
Texas Children's Hospital Autism Center, BCM, United States of America (USA) 0.03
Department of Medicine - Austin Health (AH) Node, UniMelb, Australia 0.01

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