Article
A newly recognized autosomal recessive syndrome affecting neurologic function and vision.
American journal of medical genetics. Part A - 1 Jun 2013
Salih Mustafa A, Tzschach Andreas, Oystreck Darren T, Hassan Hamdy H, AlDrees Abdulmajeed, Elmalik Salah A, El Khashab Heba Y, Wienker Thomas F, Abu-Amero Khaled K, Bosley Thomas M
Abstract excerpt
Genetic factors represent an important etiologic group in the causation of intellectual disability. We describe a Saudi Arabian family with closley related parents in which four of six children were affected by a congenital cognitive disturbance. The four individuals (aged 18, 16, 13, and 2 years when last examined) had motor and cognitive delay with seizures in early childhood, and three of the four (sparing...
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