Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the down syndrome critical region

American Journal of Medical Genetics, Part A

Volumn 152, Issue 2, 2010, Pages 356-359

  Eggermann, Thomas ^a   Schönherr, Nadine ^a   Spengler, Sabrina ^a   Jäger, Susanne ^a   Denecke, Bernd ^a   Binder, Gerhard ^b   Baudis, Michael ^c  

^a RWTH AACHEN UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^c UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

CNV; Down syndrome; DSCR1 RCAN; KCNE1; KCNQ1; Silver Russell syndrome; SNP array

Indexed keywords

GENOMIC DNA; GONADORELIN AGONIST; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNQ1; POTASSIUM CHANNEL KV1.1; POTASSIUM CHANNEL KVLQT1; PROTEIN DSCR1; RECOMBINANT GROWTH HORMONE; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 21Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CLINICAL FEATURE; FAMILY HISTORY; GENE DUPLICATION; GENE MUTATION; HUMAN; INHERITANCE; INTRAUTERINE GROWTH RETARDATION; MACROCEPHALY; MALE; NEWBORN; PHENOTYPE; POTASSIUM CURRENT; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; SKELETON MALFORMATION;

ADULT; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 21; COHORT STUDIES; DOWN SYNDROME; GENE DUPLICATION; GENOTYPE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KCNQ1 POTASSIUM CHANNEL; MALE; MUSCLE PROTEINS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; POTASSIUM CHANNELS, VOLTAGE-GATED; SILVER-RUSSELL SYNDROME;

EID: 75449088785     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33217     Document Type: Article

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