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

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 exome sequencing and homozygosity...

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Xehetasun bibliografikoak
Argitaratua izan da:Am J Hum Genet
Egile Nagusiak: Iqbal, Zafar, Willemsen, Marjolein H., Papon, Marie-Amélie, Musante, Luciana, Benevento, Marco, Hu, Hao, Venselaar, Hanka, Wissink-Lindhout, Willemijn M., Vulto-van Silfhout, Anneke T., Vissers, Lisenka E.L.M., de Brouwer, Arjan P.M., Marouillat, Sylviane, Wienker, Thomas F., Ropers, Hans Hilger, Kahrizi, Kimia, Nadif Kasri, Nael, Najmabadi, Hossein, Laumonnier, Frédéric, Kleefstra, Tjitske, van Bokhoven, Hans
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Elsevier 2015
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Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC4375531/
https://ncbi.nlm.nih.gov/pubmed/25704603
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.01.010
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