id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_eo5c5yhjmjgptesbifp6b267d4	Luciana Musante	Genetics of recessive cognitive disorders	2014	8	.pdf	application/pdf	8192	1256	39	Most severe forms of intellectual disability (ID) have specific genetic causes. microsatellite-based homozygosity mapping in large consanguineous families and subsequent mutation screening single homozygous linkage intervals in 8 of 76 consanguineous Iranian families with two or more affected children. revolutionized the genetic dissection of monogenic diseases, allowing the identification of gene defects underlying ID in familial cases In 78 of 136 families investigated a single, apparently disease-causing sequence variant was identified. these families, 26 had homozygous mutations in 23 genes ZC3H14, mutated in a consanguineous family with NSARID, is another gene whose indispensable role in the mutations in candidate genes were found in consanguineous and outbred ASD families by WES [79,80]. In populations where parental consanguinity is common, autosomal recessive gene defects must be an even for finding causative gene defects in consanguineous families, it will only detect homozygous mutations. recessive mental retardation and identifies 8 novel gene loci.	./cache/work_eo5c5yhjmjgptesbifp6b267d4.pdf	./txt/work_eo5c5yhjmjgptesbifp6b267d4.txt