Article
Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development.
Annals of neurology - 1 Aug 2018
Platzer Konrad, Cogné Benjamin, Hague Jennifer, Marcelis Carlo L, Mitter Diana, Oberndorff Katrin, Park Soo-Mi, Ploos van Amstel Hans K, Simonic Ingrid, van der Smagt Jasper J, Stegmann Alexander P A, Stevens Servi J C, Stumpel Constance T R M, Vincent Marie, Lemke Johannes R, Jamra Rami
Abstract excerpt
OBJECTIVE: Developmental delay (DD) with favorable intellectual outcome and mild intellectual disability (ID) are mostly considered to be of complex genetic and environmental origin, but, in fact, often remain unclear. We aimed at proving our assumption that also mild cases of DD and ID may be of monogenic etiology. METHODS: We clinically evaluated 8 individuals and performed exome sequencing or array copy number...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.