Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion
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DOI: 10.1002/jdn.10231
Abstract: Neurodevelopmental disorders (NDDs) are heterogeneous genetic conditions of the central nervous system (CNS). Primary phenotypes of NDDs include epilepsy, loss of developmental skills, abnormal movements, muscle weakness, ocular anomalies, hearing problems, and macro‐ or microcephaly.… read more here.
Keywords: neurodevelopmental disorders; minpp1 ngly1; kptn minpp1; genetic characterization ... See more keywords