Molecular and clinical characterization of a nonsense CDKN1C mutation in an Emirati patient with Beckwith-Wiedemann syndrome

समान संसाधन

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  प्रकाशित: (2016)
• A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child
  द्वारा: Hamzeh, Abdul Rezzak, और अन्य
  प्रकाशित: (2017)
• A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE
  द्वारा: Hamzeh, Abdul Rezzak, और अन्य
  प्रकाशित: (2017)
• AB085. Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance
  द्वारा: Chew, Hui Bein, और अन्य
  प्रकाशित: (2015)