Browsing by Author "02460fbd-8464-492e-84fa-aa0a2a9e005b"

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    • Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal ... 
      Lacassie, Yves; Johnson, Britt; Lay-Son, Guillermo; Quintana, Rita; King, Andrew; Cortés, Fanny; Álvarez, Cecilia; Gómez, Ricardo; Vargas, Alfonso; Chalew, Stuart; King, Alejandra; Guardia, Sylvia; Sorensen, Ricardo U.; Aradhya, Swaroop (Wiley, 2020)
      Autosomal recessive SOPH syndrome was first described in the Yakuts population of Asia by Maksimova et al. in 2010. It arises from biallelic pathogenic variants in the NBAS gene and is characterized by severe postnatal ...