Interstitial 7q31.1 copy number variations disrupting IMMP2L gene are associated with a wide spectrum of neurodevelopmental disorders

Molecular Cytogenetics

Volumn 7, Issue 1, 2014, Pages

  Gimelli, Stefania ^a   Capra, Valeria ^b   Di Rocco, Maja ^b   Leoni, Massimiliano ^b   Mirabelli Badenier, Marisol ^b   Schiaffino, Maria Cristina ^b   Fiorio, Patrizia ^b   Cuoco, Cristina ^b   Gimelli, Giorgio ^b   Tassano, Elisa ^b  

^a GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

Array CGH; Copy number variation; IMMP2L; Neurodevelopmental disorders

Indexed keywords

VALPROIC ACID;

AGGRESSION; AP5Z1 GENE; APRAXIA; AROUSAL; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; BODY DYSMORPHIC DISORDER; BONE AGE; BONE MATURATION; CARPAL BONE; CASE REPORT; CELIAC DISEASE; CHEST CIRCUMFERENCE; CHILD; CHROMOSOME 7Q; CONGENITAL NYSTAGMUS; CONSTIPATION; COPY NUMBER VARIATION; EXON; FEMALE; FOXK1 GENE; FRONTAL BOSSING; GENE; GENE DELETION; GENE DUPLICATION; GENERALIZED EPILEPSY; GRIFFITHS MENTAL DEVELOPMENT SCALE; HEAD CIRCUMFERENCE; HIGH ARCHED PALATE; HUMAN; HYPERACTIVITY; HYPERPHAGIA; HYPERSALIVATION; HYPERTELORISM; IMMINENT ABORTION; IMMP2L GENE; IMMUNOGLOBULIN A DEFICIENCY; INCISOR; INTELLIGENCE QUOTIENT; LANGUAGE DELAY; MALE; MICROGNATHIA; MMD2 GENE; MUSCLE HYPOTONIA; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NOCICEPTION; NOSE MALFORMATION; NYSTAGMUS; OPITZ SYNDROME; OVERLAPPING GENE; PAPOLB GENE; PHONEME; PRESCHOOL CHILD; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR DISORDER; RADIL GENE; SCHOOL CHILD; SCOLIOSIS; SEIZURE; SEQUENCE ANALYSIS; SLEEP DISORDER; SPEECH DELAY; SUBCLINICAL HYPOTHYROIDISM; TONGUE DISEASE; TONIC CLONIC SEIZURE;

EID: 84906932969     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-014-0054-y     Document Type: Article

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