De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: A case report and literature review

American Journal of Medical Genetics, Part A

Volumn 161, Issue 6, 2013, Pages 1508-1512

  Jolley, Alexandra ^a   Corbett, Mark ^b   McGregor, Lesley ^a   Waters, Wendy ^a   Brown, Susan ^a   Nicholl, Jillian ^a   Yu, Sui ^a,b  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; AUTS2 PROTEIN, HUMAN; PROTEIN;

ADOLESCENT; ANKYLOGLOSSIA; ARTICLE; AUTISM; AUTISM SUSCEPTIBILITY CANDIDATE 2 GENE; CASE REPORT; CHROMOSOME 7Q; CLINICAL ASSESSMENT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EXON; FACE DYSMORPHIA; FEBRILE CONVULSION; FLUORESCENCE IN SITU HYBRIDIZATION; FRAMESHIFT MUTATION; GENE; GENE DELETION; HAPLOINSUFFICIENCY; HUMAN; INFANTILE HYPOTONIA; INTELLECTUAL IMPAIRMENT; MALE; MICROGNATHIA; MOLECULAR PROBE; PHENOTYPIC VARIATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PTOSIS; QUANTITATIVE ANALYSIS; SHORT STATURE; STOP CODON; TREMOR; UPPER RESPIRATORY TRACT INFECTION; CHROMOSOME DELETION; CHROMOSOME INVERSION; GENE TRANSLOCATION; GENETICS; NUCLEOTIDE SEQUENCE;

ADOLESCENT; AUTISTIC DISORDER; BASE SEQUENCE; CHROMOSOME DELETION; CHROMOSOME INVERSION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; PROTEINS; TRANSLOCATION, GENETIC;

EID: 84878231980     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35922     Document Type: Article

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