Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability

Gene

Volumn 605, Issue , 2017, Pages 92-98

  van der Werf, Ilse M ^a   Van Dijck, Anke ^a   Reyniers, Edwin ^a   Helsmoortel, Céline ^a   Kumar, Ajay Anand ^a   Kalscheuer, Vera M ^b   de Brouwer, Arjan PM ^c   Kleefstra, Tjitske ^c   van Bokhoven, Hans ^c   Mortier, Geert ^a   Janssens, Sandra ^d   Vandeweyer, Geert ^a   Kooy, R Frank ^a  

^a ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^b MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^c RADBOUD UNIVERSITY   (Netherlands)

^d GHENT UNIVERSITY HOSPITAL   (Belgium)

Author keywords

MRX65; XLID; ZNF711

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTISM; CAMKMT GENE; CDCA7 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; DNA SEQUENCE; FACE DYSMORPHIA; FAMILY; FRAGILE X SYNDROME; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; INTELLECTUAL IMPAIRMENT; KDM5C GENE; LRRC4 GENE; MALE; MOLECULAR DIAGNOSIS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PQBP1 GENE; PRIORITY JOURNAL; PTBP1 GENE; SANGER SEQUENCING; SPEECH DELAY; TAF6 GENE; WHOLE EXOME SEQUENCING; X CHROMOSOME; X CHROMOSOME LINKED DISORDER; ZNF711 GENE; ARTICULATION DISORDERS; AUTISM SPECTRUM DISORDER; CHILD; EXOME; FEMALE; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; INTELLECTUAL DISABILITY; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; SEVERITY OF ILLNESS INDEX; X CHROMOSOMAL INHERITANCE;

DNA BINDING PROTEIN; ZNF711 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICULATION DISORDERS; AUTISM SPECTRUM DISORDER; BASE SEQUENCE; CHILD; DNA-BINDING PROTEINS; EXOME; FEMALE; GENE EXPRESSION; GENES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTELLECTUAL DISABILITY; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SEVERITY OF ILLNESS INDEX;

EID: 85009380824     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2016.12.013     Document Type: Article

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