Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability - van der Werf, Ilse M.; Van Dijck, Anke; Reyniers, Edwin; Helsmoortel, Céline; Kumar, Ajay Anand; Kalscheuer, Vera M.; de Brouwer, Arjan PM; Kleefstra, Tjitske; van Bokhoven, Hans; Mortier, Geert; Janssens, Sandra; Vandeweyer, Geert; et al. (Gene, 2017)
Keywords: Adolescent; Adult; Articulation Disorders - diagnosis; Articulation Disorders - genetics; Articulation Disorders - physiopathology; Autism Spectrum Disorder - diagnosis; Autism Spectrum Disorder - genetics; Autism Spectrum Disorder - physiopathology; Base Sequence; Child; cognition; DNA-Binding Proteins - genetics; Exome; Female; Gene Expression; genes; Genes, X-Linked; Genetic Predisposition to Disease; Genome-Wide Association Study; Humans; Intellectual Disability - diagnosis; Intellectual Disability - genetics; Intellectual Disability - physiopathology; Male; males; Middle Aged; MRX65; Mutation; patients; Pedigree; Phenotype; Sequence Analysis, DNA; Severity of Illness Index; speech; XLID; ZNF711; CADD; KDM5C; ICD-10; RNA; CDCA7; LRRC4; THY1; REVEL; CNN3; PHF8; PQBP1; STR; PTBP1; ARID; HEK293; UTR; ZNF81; ExAC; GRCh37/hg19; SNP; ZNF41; PIEZO2; cDNA; FYN; ID; ADID; XLID; IQ; SYP; YWHAZ; TCGA; CAMKMT; MRX65; (q)PCR; DNA; CHDH; TAF6; ZNF711; HPRT1; ZNF674