Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly

In two independent consanguineous families each with two children affected by mild intellectual disability and microcephaly, we identified two homozygous missense variants (c.119T>A [p.Met40Lys] and c.92T>A [p.Leu31His]) in TATA-box-binding-protein-associated factor 13 (TAF13). Molecular model...

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保存先:
書誌詳細
出版年:Am J Hum Genet
主要な著者: Tawamie, Hasan, Martianov, Igor, Wohlfahrt, Natalie, Buchert, Rebecca, Mengus, Gabrielle, Uebe, Steffen, Janiri, Luigi, Hirsch, Franz Wolfgang, Schumacher, Johannes, Ferrazzi, Fulvia, Sticht, Heinrich, Reis, André, Davidson, Irwin, Colombo, Roberto, Abou Jamra, Rami
フォーマット: Artigo
言語:Inglês
出版事項: Elsevier 2017
主題:
Report
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5339287/
https://ncbi.nlm.nih.gov/pubmed/28257693
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.01.032
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