【摘 要】
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The rapid uptake of exome sequencing has greatly increased the molecular diagnosis in Mendelian genetic syndromes.Providing adequate genetic evidence for rare syndromes remains challenging,with genes
【机 构】
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MRC Human Genetics Unit,University of Edinburgh,UK
【出 处】
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The 2nd International Rare Diseases Research Consortium Conf
论文部分内容阅读
The rapid uptake of exome sequencing has greatly increased the molecular diagnosis in Mendelian genetic syndromes.Providing adequate genetic evidence for rare syndromes remains challenging,with genes mutated in several families a minimum genetic requirement to confidently assign pathogenicity.In this era of exome and genome sequencing,it has become increasingly important to form collaborations with geneticists with similar patient cohorts to maximise the chances of gene discovery,and thereby provide insight into the genetics of rare Mendelian syndromes.As an example of successful international collaboration,we have identified mutations in the master regulator of centriole duplication,the PLK4 kinase,and its substrate TUBGCP6 in patients with microcephalic primordial dwarfism and additional congenital anomalies including retinopathy.
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