335.4kb microduplication in chromosome band Xp11.2p11.3 associated with developmental delay, growth retardation, autistic disorder and dysmorphic features

Gene

Volumn 505, Issue 2, 2012, Pages 384-387

  Alesi, Viola ^a   Bertoli, Marta ^a   Barrano, Giuseppe ^a   Torres, Barbara ^b   Pusceddu, Silvia ^c   Pastorino, Myriam ^c   Perria, Chiara ^c   Nardone, Anna Maria ^d   Novelli, Antonio ^b   Serra, Gigliola ^c  

^a FATEBENEFRATELLI HOSPITAL   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c UNIVERSITY HOSPITAL OF SASSARI   (Italy)

^d TOR VERGATA UNIVERSITY HOSPITAL   (Italy)

Author keywords

Autism spectrum disorder; Intellectual disability; X linked mental retardation; ZNF81 duplication

Indexed keywords

BIOLOGICAL MARKER; MESSENGER RNA; PQB1 PROTEIN; SPACA5 PROTEIN; UNCLASSIFIED DRUG; ZNF182 PROTEIN; ZNF41 PROTEIN; ZNF81 PROTEIN; ALLOANTIGEN; KRUPPEL LIKE FACTOR; SEMINAL PLASMA PROTEIN; SPACA5 PROTEIN, HUMAN; ZNF81 PROTEIN, HUMAN;

ARTICLE; AUTISM; CASE REPORT; CHILD; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; COMPULSION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FETUS DISTRESS; GENE DELETION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ASSOCIATION; GROWTH RETARDATION; HUMAN; HYPOACUSIS; INTRAUTERINE GROWTH RETARDATION; MALE; MENTAL DEFICIENCY; MICROGNATHIA; MIDFACE HYPOPLASIA; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; MYOPIA; NONSENSE MUTATION; OTITIS MEDIA; PALPEBRAL FISSURE ANOMALY; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ANALYSIS; SHORT STATURE; SPEECH DISORDER; UMBILICAL HERNIA; UPPER RESPIRATORY TRACT INFECTION; GENETICS; SEX CHROMOSOME ABERRATION; X CHROMOSOME; X LINKED MENTAL RETARDATION;

AUTISTIC DISORDER; CHILD, PRESCHOOL; CHROMOSOME DUPLICATION; CHROMOSOMES, HUMAN, X; HUMANS; ISOANTIGENS; KRUPPEL-LIKE TRANSCRIPTION FACTORS; MALE; MENTAL RETARDATION, X-LINKED; SEMINAL PLASMA PROTEINS; SEX CHROMOSOME ABERRATIONS;

EID: 84864122582     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.05.031     Document Type: Article

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