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Abbreviation : NS-XLID
Long Form : nonsyndromic X-linked intellectual disability
No. Year Title Co-occurring Abbreviation
2018 [Whole exome sequencing analysis for a Chinese pedigree affected with X-Linked intellectual disability]. FXS, MLPA, WES
2016 Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism. CB
2015 Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. ---
2014 A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype. ---
2014 The CNK2 scaffold interacts with vilse and modulates Rac cycling during spine morphogenesis in hippocampal neurons. CNK2
2012 Mutational screening of ARX gene in Iranian families with X-linked intellectual disability. ARX, PRTS, SSCP, XLAG
2011 A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3. MLPA, qPCR