Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion

已完结 20 由木美发布于 2025/8/20 14:28:28

DOI:10.1002/jdn.10231
作者：Asmat Ullah,?Abid Ali Shah,?Majed Alluqmani,?Nighat Haider,?Hasan Aman,?Fatima Alfadhli,?Ahmad M. Almatrafi,?Alia M. Albalawi,?Jai Krishin,?Fati Ullah Khan,?Bilal Ali Anjam,? Abdullah,?Elionora Pe?a L
文献类型：期刊论文
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Abstract：Neurodevelopmental disorders (NDDs) are heterogeneous genetic conditions of the central nervous system (CNS). Primary phenotypes of NDDs include epilepsy, loss of developmental skills, abnor

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