المؤلفون: Morad Khayat, Alessandra Torraco, M. Eileen McCormick, Klaas J. Wierenga, Holger Hengel, Rosalba Carrozzo, Stavit A. Shalev, Camilla Ceccatelli Berti, Muhammad Mahajnah, Paola Goffrini, Amit Kessel, Rajech Sharkia, Ronen Spiegel, Ludger Schöls, Andrea Klein, Abdussalam Azem, Barbara Plecko, Lucia Abela, Enrico Bertini

المصدر: Journal of inherited metabolic disease 42(2), 264-275 (2019). doi:10.1002/jimd.12022

مصطلحات موضوعية: Male, Retinal degeneration, Microcephaly, Pathology, Internationality, Compound heterozygosity, genetics [Optic Atrophy], Cerebellum, pathology [Cerebellum], genetics [Exome], Missense mutation, Exome, 610 Medicine & health, Child, Genetics (clinical), Aconitate Hydratase, 0303 health sciences, Homozygote, 030305 genetics & heredity, High-Throughput Nucleotide Sequencing, Neurodegenerative Diseases, ACO2, Syndrome, genetics [Ataxia], Magnetic Resonance Imaging, genetics [Retinal Dystrophies], Child, Preschool, Female, diagnosis [Retinal Dystrophies], medicine.medical_specialty, Adolescent, genetics [Aconitate Hydratase], Citric Acid Cycle, diagnosis [Neurodegenerative Diseases], Mutation, Missense, Aconitase, Young Adult, 03 medical and health sciences, Atrophy, genetics [Microcephaly], Retinal Dystrophies, Genetics, medicine, Humans, ddc:610, 030304 developmental biology, business.industry, diagnosis [Optic Atrophy], medicine.disease, Optic Atrophy, genetics [Neurodegenerative Diseases], deficiency [Aconitate Hydratase], Ataxia, business, Truncal ataxia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a10635375098a53dd82a5972086f8668
https://doi.org/10.1002/jimd.12022