Novel PDE6A mutation in an Emirati patient with retinitis pigmentosa

Lignende værker

• Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5′ Untranslated Region
  af: Nair, Pratibha, et al.
  Udgivet: (2016)
• Identification of a novel CTCF mutation responsible for syndromic intellectual disability – a case report
  af: Bastaki, Fatma, et al.
  Udgivet: (2017)
• Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome
  af: Bastaki, Fatma, et al.
  Udgivet: (2016)
• A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child
  af: Hamzeh, Abdul Rezzak, et al.
  Udgivet: (2017)
• A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE
  af: Hamzeh, Abdul Rezzak, et al.
  Udgivet: (2017)