关键词: Coffin-Lowry syndrome RPS6KA3 mutation X-linked syndrome progressive skeletal changes stimulus-induced drop episodes (SIDEs)
Mesh : Child Child, Preschool Coffin-Lowry Syndrome / diagnosis genetics DNA Mutational Analysis Facies Female Genotype Humans Infant Mutation Phenotype Protein Interaction Domains and Motifs Radiography Ribosomal Protein S6 Kinases, 90-kDa / chemistry genetics Scoliosis / diagnostic imaging genetics
来 源:
DOI:10.1002/ajmg.a.36299
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