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23 results
  • Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism. [Journal Article]
    J Med Genet 2013; 50(8):515-20Köroğlu Ç, Seven M, Tolun A
  • CONCLUSIONS: NALCN is the gene responsible for INAD with facial dysmorphism. The patients have lived to adulthood despite severe growth and neuromotor retardation. NALCN forms a voltage-independent ion channel with a role in the regulation of neuronal excitability. Our findings broaden the spectrum of genes associated with neuroaxonal dystrophy. Testing infants with idiopathic severe growth retardation and neurodegeneration for NALCN mutations could benefit families.
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