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Paper Details

Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion.
International Journal of Developmental Neuroscience
1
2022
A, AP4B1, Arg2447X, FLG, G, KPTN, KPTN: NM_007059.4:c.301T, MINPP1, NDD, NDDs, NGLY1, NM_138927.2, NP_001171588, NP_008990, NP_060767, Neurodevelopmental disorders, SON, Ser515LysfsTer51, T, Trp556X, Val1918GlufsTer87, abnormal movements, c, c.1202G, c.7339C, epilepsy, genes, genetic conditions, hearing problems, loss of developmental skills, macro- or microcephaly, muscle weakness, neurodevelopmental disorders, neurodevelopmental symptoms, neurological symptoms, ocular anomalies, patients
Author NameAffiliation
Torben HansenNovo Nordisk Foundation Center for Basic Metabolic Research, University of Copenhagen
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Release 1.2