Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6

American Journal of Medical Genetics, Part A

Volumn 155, Issue 1, 2011, Pages 113-119

  Yamamoto, Toshiyuki ^a   Shimojima, Keiko ^a   Nishizawa, Tsutomu ^b   Matsuo, Mari ^a,c   Ito, Masahiro ^d   Imai, Katsumi ^e  

^a TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^b JICHI MEDICAL UNIVERSITY   (Japan)

^c Fuchu Rehabilitation Center   (Japan)

^d TOKYO METROPOLITAN BOKUTOH HOSPITAL   (Japan)

^e SHIZUOKA INSTITUTE OF EPILEPSY AND NEUROLOGICAL DISORDERS   (Japan)

Author keywords

Array comparative genomic hybridization (CGH); DSCR; DYRK1A; Hsa21; KCNJ6; Mental retardation

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL; PROTEIN DYRK1A; PROTEIN KCNJ6; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 21Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME MOSAICISM; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; DOWN SYNDROME; EPILEPSY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MICROARRAY ANALYSIS; MICROCEPHALY; MUTATIONAL ANALYSIS; PARTIAL MONOSOMY; PRIORITY JOURNAL;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 21; COHORT STUDIES; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETIC ANALYSIS; DEVELOPMENTAL DISABILITIES; DOWN SYNDROME; G PROTEIN-COUPLED INWARDLY-RECTIFYING POTASSIUM CHANNELS; HUMANS; MICROARRAY ANALYSIS; PHENOTYPE; PROTEIN-SERINE-THREONINE KINASES; PROTEIN-TYROSINE KINASES;

EID: 78650671408     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33735     Document Type: Article

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