Ontology highlight
ABSTRACT:
SUBMITTER: Eroglu Y
PROVIDER: S-EPMC6016830 | biostudies-literature | 2017 Aug
REPOSITORIES: biostudies-literature
Eroglu Yasemen Y Nguyen-Driver Mina M Steiner Robert D RD Merkens Louise L Merkens Mark M Roullet Jean-Baptiste JB Elias Ellen E Sarphare Geeta G Porter Forbes D FD Li Chumei C Tierney Elaine E Nowaczyk Małgorzata J MJ Freeman Kurt A KA
American journal of medical genetics. Part A 20170327 8
Children with Smith-Lemli-Opitz syndrome (SLOS) are typically reported to have moderate to severe intellectual disability. This study aims to determine whether normal cognitive function is possible in this population and to describe clinical, biochemical and molecular characteristics of children with SLOS and normal intelligent quotient (IQ). The study included children with SLOS who underwent cognitive testing in four centers. All children with at least one IQ composite score above 80 were incl ...[more]