Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Page 1 of 1
Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes
Jon Moulton Thu Nov 06, 2014 4:07 pm
Carvalho CMB, Vasanth S, Shinawi M, Russell C, Ramocki MB, Brown CW, Graakjaer J, Skytte A-B, Vianna-Morgante AM, Krepischi ACV, Patel GS, Immken L, Aleck K, Lim C, Cheung SW, Rosenberg C, Katsanis N, Lupskiemail JR. Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes. Am J Hum Genet. 2014;95(5):565-78. doi:/10.1016/j.ajhg.2014.10.006
Jon Moulton- Posts : 5721
Join date : 2010-03-12
Age : 61
Location : Philomath, Oregon, USA -
Similar topics» Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy
» De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
» Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes
» CTNND2-a candidate gene for reading problems and mild intellectual disability
» A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
» De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
» Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes
» CTNND2-a candidate gene for reading problems and mild intellectual disability
» A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Page 1 of 1
Permissions in this forum:
You cannot reply to topics in this forum|
|
|