Homozygous deletion in TUSC3 causing syndromic intellectual disability: A new patient

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 2084-2087

  Loddo, Sara ^a,b   Parisi, Valentina ^a,c   Doccini, Viola ^d   Filippi, Tiziana ^d   Bernardini, Laura ^a   Brovedani, Paola ^d   Ricci, Federica ^d   Novelli, Antonio ^a   Battaglia, Agatino ^d  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

Author keywords

Autosomic recessive mental retardation (ARMR); Homozygous 8p22 deletion; Intellectual disability; SNP array; TUSC3 gene

Indexed keywords

ANAMNESIS; ANXIETY; APRAXIA; AROUSAL; ARTICLE; CASE REPORT; CELL MEMBRANE; CHILD; CYTOGENETICS; DEVELOPMENTAL DISORDER; DISTRACTIBILITY; FAMILY HISTORY; FOLLOW UP; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENETIC SCREENING; GILBERT DISEASE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYDROCEPHALUS; HYPERMETROPIA; INTELLECTUAL IMPAIRMENT; IRRITABILITY; LEARNING; LONG TERM MEMORY; MALE; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPPOSITIONAL DEFIANT DISORDER; PRIORITY JOURNAL; SCHOOL CHILD; SHORT TERM MEMORY; SINGLE NUCLEOTIDE POLYMORPHISM; SLEEP WAKING CYCLE; SPEECH DISORDER; TUSC3 GENE; WORKING MEMORY;

AUTOSOMIC RECESSIVE MENTAL RETARDATION (ARMR); HOMOZYGOUS 8P22 DELETION; INTELLECTUAL DISABILITY; SNP-ARRAY; TUSC3 GENE;

CHILD; CHROMOSOMES, HUMAN, PAIR 8; COMPARATIVE GENOMIC HYBRIDIZATION; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MALE; MEMBRANE PROTEINS; PHENOTYPE; SEQUENCE DELETION; SYNDROME; TUMOR SUPPRESSOR PROTEINS;

EID: 84880708951     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36028     Document Type: Article

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