Homozygous SLC6A17 Mutations Cause Autosomal-Recessive Intellectual Disability with Progressive Tremor, Speech Impairment, and Behavioral Problems

Article, Other literature type OPEN
Iqbal, Z.; Willemsen, M.; Papon, M.; Musante, L.; Benevento, M.; Hu, H.; Venselaar, H.; Wissink-Lindhout, W.; Vulto-van Silfhout, A.; Vissers, L.; de Brouwer, A.; Marouillat, S.; Wienker, T.; Ropers, H.; Kahrizi, K.; Nadif Kasri, N.; Najmabadi, H.; Laumonnier, F.; Kleefstra, T.; van Bokhoven, H.;
(2015)

We report on Dutch and Iranian families with affected individuals who present with moderate to severe intellectual disability and additional phenotypes including progressive tremor, speech impairment, and behavioral problems in certain individuals. A combination of exom... View more
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