Carvalho et al., 2014 - Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes. American journal of human genetics   95:565-78 Full text @ Am. J. Hum. Genet.
6 Genes / Markers
Marker Type Symbol Name
Gene acadvl acyl-CoA dehydrogenase very long chain
Gene cldn7a claudin 7a
Gene ctdnep1b CTD nuclear envelope phosphatase 1b
Gene dvl2 dishevelled segment polarity protein 2
Gene eif5a eukaryotic translation initiation factor 5A
Gene gabarapb GABA(A) receptor-associated protein b