Skip to main navigation Skip to search Skip to main content

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia

  • Andreas Liampas
  • , Paschalis Nicolaou
  • , Christina Votsi
  • , Anthi Georghiou
  • , Kyproula Christodoulou
  • , George A. Tanteles
  • , Marios Pantzaris
  • Cyprus Institute of Neurology and Genetics
  • Medical Genetics Department

Research output: Contribution to journal › Article › peer-review

Fingerprint

Dive into the research topics of 'Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia'. Together they form a unique fingerprint.
Sort by

Biochemistry, Genetics and Molecular Biology

Keyphrases