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)

Publisher: Elsevier BV

Journal: The American Journal of Human Genetics,volume 96,issue 3,pages386-396 (issn: 0002-9297)

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Related identifiers: pmc: PMC4375531, doi: 10.1016/j.ajhg.2015.01.010
Subject: Genetics(clinical) | Genetics | Article

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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