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Autor:
Yasser Al-Sarraj BSC, Tawfeg Ben-Omran MD, Mohammed Tolefat MBBS, Yosra Bejaoui MSc, Hatem El-Shanti MD, Marios Kambouris PhD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 2 (2014)
A consanguineous Qatari family having an autosomal recessive disorder characterized by severe mental retardation, cerebellar vermis hypoplasia, retinal degeneration, optic nerve atrophy, ataxic gait, and seizures was studied for identification of the
Externí odkaz:
https://doaj.org/article/2892747a39bc456f9bce7d7112296d43
