Homozygous deletion of Tenascin-R in a patient with intellectual disability

Journal of Medical Genetics

Volumn 49, Issue 7, 2012, Pages 451-454

  Dufresne, David ^a   Hamdan, Fadi F ^b   Rosenfeld, Jill A ^c   Torchia, Beth ^c   Rosenblatt, Bernard ^a   Michaud, Jacques L ^b   Srour, Myriam ^a  

^a MONTREAL CHILDREN S HOSPITAL   (Canada)

^b UNIVERSITY OF MONTREAL   (Canada)

^c PERKINELMER INC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLONAZEPAM; DIPHENHYDRAMINE; LEVODOPA; PURINE; PYRIMIDINE; TENASCIN; TENASCIN R; UNCLASSIFIED DRUG;

APGAR SCORE; ARTICLE; BIRTH WEIGHT; CASE REPORT; CEREBELLUM VERMIS; CHILD; CHOREOATHETOSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CONSCIOUSNESS DISORDER; DEVELOPMENTAL DISORDER; ELECTROMYOGRAPHY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HUMAN; HYPERREFLEXIA; HYPOPLASIA; INTELLECTUAL IMPAIRMENT; METABOLIC DISORDER; MICROARRAY ANALYSIS; MICROCEPHALY; MUSCLE HYPOTONIA; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OLIGONUCLEOTIDE PROBE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; QUADRIPLEGIA; SCOLIOSIS; SEIZURE; SEQUENCE ANALYSIS; TREATMENT FAILURE; URINALYSIS;

CENTRAL NERVOUS SYSTEM; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HOMOZYGOTE; HUMANS; INFANT; INTELLECTUAL DISABILITY; NUCLEIC ACID HYBRIDIZATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; TENASCIN;

MUS;

EID: 84864307495     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-100831     Document Type: Article

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