Huge boost for genetics of cognitive disorders
نویسندگان
چکیده
منابع مشابه
Genetics of recessive cognitive disorders.
Most severe forms of intellectual disability (ID) have specific genetic causes. Numerous X chromosome gene defects and disease-causing copy-number variants have been linked to ID and related disorders, and recent studies have revealed that sporadic cases are often due to dominant de novo mutations with low recurrence risk. For autosomal recessive ID (ARID) the recurrence risk is high and, in po...
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Genetic bleeding disorders form an important presentation among various genetic disorders occurring in children. A prevalence of 6 per 100,000 population has been reported in India. Bleeding disorders constitute a heterogenous group of disorders with varying clinical presentations. The common bleeding disorders are Hemophilia A and B, von Willebrand disease, and inherited thrombocytopenias. In ...
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ژورنال
عنوان ژورنال: Nature Reviews Genetics
سال: 2011
ISSN: 1471-0056,1471-0064
DOI: 10.1038/nrg3085