A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

Journal of Medical Genetics

Volumn 46, Issue 6, 2009, Pages 412-417

  Knijnenburg, J ^a   Lesnik Oberstein, S A J ^a   Frei, K ^b   Lucas, T ^b   Gijsbers, A C J ^a   Ruivenkamp, C A L ^a   Tanke, H J ^a   Szuhai, K ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL INHERITANCE; CASE REPORT; CHILD; CHROMOSOME 15Q; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENETIC DISTANCE; GENETIC SCREENING; HEARING LOSS; HEMIZYGOSITY; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; MARRIAGE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; SCHOOL CHILD;

CHILD; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 15; COMPARATIVE GENOMIC HYBRIDIZATION; GENE DELETION; GENE DOSAGE; HEARING LOSS; HOMOZYGOTE; HUMANS; MALE; MENTAL RETARDATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SEQUENCE ANALYSIS, DNA; SYNDROME;

EID: 67449152718     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2008.063685     Document Type: Article

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