Auteurs
Bruno DL - Anderlid BM - Lindstrand A - van Ravenswaaij-Arts C - Ganesamoorthy D - Lundin J - Martin CL - Douglas J - Nowak C - Adam MP - Kooy RF - Van der Aa N - Reyniers E - Vandeweyer G - Stolte-Dijkstra I - Dijkhuizen T - Yeung A - Delatycki M - Borgström B - Thelin L - Cardoso C - van Bon B - Pfundt R - de Vries BB - Wallin A - Amor DJ - James PA - Slater HR - Schoumans J
Journal
Journal of medical genetics
Abstract
Chromosome 17p13.3 contains extensive repetitive sequences and is a recognised region of genomic instability. Haploinsufficiency of PAFAH1B1 (encoding LIS1) causes either isolated lissencephaly sequence or Miller-Dieker syndrome, depending on the size of the deletion. More recently, both microdeletions and microduplications mapping to the Miller-Dieker syndrome telomeric critical region have been identified and associated with distinct but overlapping phenotypes.