A de novo 1.5Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis

Autism Research

Volumn 4, Issue 3, 2011, Pages 221-227

  Griswold, Anthony J ^a   Ma, Deqiong ^a   Sacharow, Stephanie J ^a   Robinson, Joycelyn L ^a   Jaworski, James M ^a   Wright, Harry H ^b   Abramson, Ruth K ^b   Lybæk, Helle ^c   Øyen, Nina ^c   Cuccaro, Michael L ^a   Gilbert, John R ^a   Pericak Vance, Margaret A ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF SOUTH CAROLINA SCHOOL OF MEDICINE   (United States)

^c HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

Copy number variation

Indexed keywords

CHURCHILL DOMAIN CONTAINING PROTEIN 1; ENOX1 PROTEIN; HYPOXIA INDUCIBLE FACTOR 1ALPHA; IFNAR1 PROTEIN; METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1; PLECKSTRIN HOMOLOGY DOMAIN CONTAINING FAMILY G MEMBER 3; PROTEIN; SLC39A6 PROTEIN; SPECTRIN BETA; UNCLASSIFIED DRUG;

ADAPTIVE BEHAVIOR; ADOLESCENT; ANXIETY DISORDER; ARTICLE; AUTISM; AUTISM DIAGNOSTIC OBSERVATION SCHEDULE; CHROMOSOME 14Q; CHROMOSOME DELETION; CHROMOSOME DELETION 14Q23; CLINICAL ARTICLE; COPY NUMBER VARIATION; FACE DYSMORPHIA; FAMILY ASSESSMENT; FEMALE; GENE LOCUS; GENOTYPE; HUMAN; MACROCEPHALY; MALE; MIGRAINE; OBESITY; PANIC; PRIORITY JOURNAL; PSYCHOLOGIC TEST; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; REVISED AUTISM DIAGNOSTIC INTERVIEW; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; SPHEROCYTOSIS; TACHYCARDIA;

ADOLESCENT; ALLELES; AUTISTIC DISORDER; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 14; COMORBIDITY; DNA COPY NUMBER VARIATIONS; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; INTELLECTUAL DISABILITY; LEARNING DISORDERS; MALE; METHYLENETETRAHYDROFOLATE DEHYDROGENASE (NADP); PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SPHEROCYTOSIS, HEREDITARY;

EID: 79958130968     PISSN: 19393792     EISSN: 19393806     Source Type: Journal    
DOI: 10.1002/aur.186     Document Type: Article

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