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Paper Details

Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.
Hum Mutat
1
2022
2-oxoglutarate, 2-oxoglutarate dehydrogenase, Arg412His), Arg72Gln, Arg72Gln), Iron-, NFS1, NFS1-related disorders, c.215G, complex II and III, complexes, cytosolic aconitase, fatigue, gastrointestinal symptoms, hypotonia, infants, iron, iron-, lactic acidosis, missense variant, mitochondrial complex II and III deficiency, p.(, patient, patients, pyruvate, pyruvate dehydrogenase, sulfur, weakness
Author NameAffiliation
Marisa W FriederichSection of Clinical Genetics and Metabolism, University of Colorado
Marisa W FriederichChildren's Hospital Colorado
David DimmockRady Children's Hospital San Diego, Rady Children's Institute for Genomic Medicine
Robert A HegeleSchulich School of Medicine and Dentistry, Robarts Research Institute, Western University
Robert A HegeleSchulich School of Medicine and Dentistry, Western University
Kandamurugu ManickamNationwide Children's Hospital
Daniel C KoboldtSteve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital
Richard HaasUniversity of California San Diego
Richard HaasRady Children's Hospital
Johan L K Van HoveSection of Clinical Genetics and Metabolism, University of Colorado
Johan L K Van HoveChildren's Hospital Colorado
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Release 1.2