Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome

European Journal of Human Genetics

Volumn 15, Issue 11, 2007, Pages 1132-1138

  Flipsen ten Berg, Klara ^a   van Hasselt, Peter M ^a   Eleveld, Marc J ^a   van der Wijst, Suzanne E ^a   Hol, Frans A ^b   de Vroede, Monique A M ^a   Beemer, Frits A ^a   Hochstenbach, P F Ron ^a   Poot, Martin ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Array CGH; Chromosomal deletion; Hemizygous WFS1 mutation; Wolf Hirschhorn syndrome; Wolfram syndrome

Indexed keywords

GENE PRODUCT; PROTEIN WFS1; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHROMOSOME 4; CHROMOSOME 4P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL EVALUATION; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC VARIABILITY; HEMIZYGOSITY; HUMAN; MALE; NONSENSE MUTATION; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; WOLF HIRSCHHORN SYNDROME;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; CODON, NONSENSE; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; PHENOTYPE; POINT MUTATION; WOLF-HIRSCHHORN SYNDROME;

EID: 35548932052     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201899     Document Type: Article

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