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A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.

Akiko HikoyaKatsuhiro HosonoKaoru OnoShinji AraiNobutaka TachibanaKentaro KurataKaoruko ToriiMiho SatoHirotomo SaitsuTsutomu OgataYoshihiro Hotta
Published in: Ophthalmic genetics (2022)
variants not associated with skeletal abnormalities.
Keyphrases
  • copy number
  • genome wide
  • intellectual disability
  • dna methylation
  • gene expression
  • autism spectrum disorder