Familial KANK1 deletion that does not follow expected imprinting pattern

European Journal of Medical Genetics

Volumn 56, Issue 5, 2013, Pages 256-259

  Vanzo, Rena J ^a   Martin, Megan M ^a   Sdano, Mallory R ^a   South, Sarah T ^b,c  

^a Lineagen Inc   (United States)

^b ARUP LABORATORIES   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

Author keywords

9p24.3; Autism spectrum disorders; Cerebral palsy; Imprinting; KANK1; Monoallelic expression

Indexed keywords

ARTICLE; AUTISM; CASE REPORT; CHILD; COPY NUMBER VARIATION; GENE; GENE DELETION; GENE LOCUS; GENETIC VARIABILITY; GENOME IMPRINTING; HUMAN; INTELLECTUAL IMPAIRMENT; KANK1 GENE; MALE; MOTOR DYSFUNCTION; PHENOTYPE; PRESCHOOL CHILD; SCHOOL CHILD; SEQUENCE ANALYSIS;

ALLELES; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHROMOSOMES, HUMAN, PAIR 9; DNA COPY NUMBER VARIATIONS; GENE DELETION; GENOMIC IMPRINTING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MALE; PEDIGREE; PHENOTYPE; QUADRIPLEGIA; TUMOR SUPPRESSOR PROTEINS;

EID: 84878658920     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2013.02.006     Document Type: Article

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