Article
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 : the official journal of the International Society for Developmental Neuroscience - 1 Dec 2022
Ullah Asmat, Shah Abid Ali, Alluqmani Majed, Haider Nighat, Aman Hasan, Alfadhli Fatima, Almatrafi Ahmad M, Albalawi Alia M, Krishin Jai, Ullah Khan Fati, Anjam Bilal Ali, Abdullah, Lozano Elionora Peña, Samad Abdus, Ahmad Wasim, Hansen Torben, Xia Kun, Basit Sulman
Abstract excerpt
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. NDDs occur due to variants in genes encoding proteins involved in the structure and function of CNS, thus interrupting its normal...
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