Severe SOPH syndrome due to a novel NBAS mutation in a 27-year-old woman-Review of this pleiotropic, autosomal recessive disorder: Mystery solved after two decades
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)