A patient with de novo 0.45Mb deletion of 2p16.1: The role of BCL11A, PAPOLG, REL, and FLJ16341 in the 2p15-p16.1 microdeletion syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 4, 2013, Pages 865-870

  Hancarova, Miroslava ^a   Simandlova, Martina ^a   Drabova, Jana ^a   Mannik, Katrin ^b   Kurg, Ants ^b   Sedlacek, Zdenek ^a  

^a UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^b UNIVERSITY OF TARTU   (Estonia)

Author keywords

2p15 p16.1 microdeletion syndrome; Autism; Copy number variation; Developmental delay; Intellectual disability; SNP array

Indexed keywords

UNTRANSLATED RNA;

2P15 P16.1 MICRODELETION SYNDROME; ALLELE; ARTICLE; BCL11A GENE; CASE REPORT; CHILD; CHROMOSOME 2P; CHROMOSOME DELETION Y; CLINICAL FEATURE; FEMALE; FLJ16341 GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; PAPOLG GENE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; PSYCHOMOTOR DISORDER; REL GENE; SCHOOL CHILD;

ABNORMALITIES, MULTIPLE; CARRIER PROTEINS; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; FACIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTO-ONCOGENE PROTEINS C-REL; SYNDROME;

EID: 84875548728     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35783     Document Type: Article

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