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    • A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome. 

      S Rahimi-Aliabadi; N Daftarian; H Ahmadieh; B Emamalizadeh; J Jamshidi; A Tafakhori; H Ghaedi; R Noroozi; S Taghavi; A Ahmadifard; E Alehabib; M Andarva; P Shokraeian; M Atakhorrami; H Darvish (2016-Nov)
      PurposeJalili syndrome is an autosomal recessive disorder characterized by simultaneous appearance of cone-rod dystrophy (CRD) and amelogenesis imperfecta (AI). Mutations in CNNM4 gene have been identified as the underlying ...