A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Du, Xiaonan ^a   An, Yu ^b   Yu, Lifei ^a   Liu, Renchao ^b   Qin, Yanrong ^b   Guo, Xiaohong ^a   Sun, Daokan ^a   Zhou, Shuizhen ^a   Wu, Bailin ^b,c   Jiang, Yong hui ^d   Wang, Yi ^a  

^a CHILDREN S HOSPITAL OF FUDAN UNIVERSITY   (China)

^b FUDAN UNIVERSITY   (China)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Array CGH; Autism spectrum disorders; Copy number variants; HNRNPU; Infantile spasms; MBD5

Indexed keywords

DNA BINDING PROTEIN; METHYL DNA BINDING PROTEIN 5; PROTEIN; PROTEIN HNRNPU; UNCLASSIFIED DRUG;

AGYRIA; ARTICLE; AUTISM; BRAIN DISEASE; BRAIN MALFORMATION; CHILD; CHINESE; CHROMOSOME 17P; CHROMOSOME 1Q; CHROMOSOME 2Q; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONTROLLED STUDY; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; ELECTROENCEPHALOGRAM; FEMALE; GENE DELETION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HALLUX; HAPLOINSUFFICIENCY; HUMAN; HYPSARRHYTHMIA; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; LIMB MALFORMATION; MACROGYRIA; MALE; MICROCEPHALY; PATHOGENICITY; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SPEECH DISORDER; TONIC CLONIC SEIZURE;

1-ALKYL-2-ACETYLGLYCEROPHOSPHOCHOLINE ESTERASE; AGE OF ONSET; BRAIN; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 17; CHROMOSOMES, HUMAN, PAIR 2; DNA COPY NUMBER VARIATIONS; DNA-BINDING PROTEINS; FACIES; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HETEROGENEOUS-NUCLEAR RIBONUCLEOPROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; MICROTUBULE-ASSOCIATED PROTEINS; PHENOTYPE; SPASMS, INFANTILE;

EID: 84902536437     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-62     Document Type: Article

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