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...
متن کاملMolecular Genetics of Autosomal Recessive Congenital Ichthyosis
3 It seems as though I had not drunk from the cup of wisdom, but had fallen into it Søren Kierkegaard To Panu
متن کاملa review on genetics of sleep disorders
ône-third of population deal with sleep disorders which might be due to social, economic or medical problems. studies on twins have indicated the role of genetic factors in these disorders. monozygotic twins have a very similar hypnogram. â higher prevalence of some sleep disorders is reported in relatives of the patients with these disorders. genes also affect sleep disorders as well as some o...
متن کاملGenetics of Bleeding Disorders
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 ...
متن کاملGenetics of pigmentary disorders.
The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1-4 (WS1-WS4); dyschromatosis symmetrica hereditaria. (2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Trends in Genetics
سال: 2014
ISSN: 0168-9525
DOI: 10.1016/j.tig.2013.09.008