کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6042463 1189792 2013 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Microcephaly Thin Corpus Callosum Intellectual Disability Syndrome Caused by Mutated TAF2
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Microcephaly Thin Corpus Callosum Intellectual Disability Syndrome Caused by Mutated TAF2
چکیده انگلیسی
We propose that the disorder is caused by the more conserved mutation p.Thr186Arg, with the second sequence change identified, p.Pro416His, possibly further negatively affecting the function of the protein. However, it is unclear which of the two changes, or maybe both, represents the causative mutation. A single missense mutation in TAF2 in a family with microcephaly and intellectual disability was described in a large-scale study reporting on the identification of 50 novel genes. We suggest that a mutation in TAF2 can cause this syndrome.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Pediatric Neurology - Volume 49, Issue 6, December 2013, Pages 411-416.e1
نویسندگان
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