A newly recognized autosomal recessive syndrome affecting neurologic function and vision

Salih MA, Tzschach A, Oystreck DT, Hassan HH, AlDrees A, Elmalik SA, El Khashab HY, Wienker TF, Abu-Amero KK, Bosley TM. A newly recognized autosomal recessive syndrome affecting neurologic function and vision. Am J Med Genet A. 2013 Jun;161A(6):1207-13.