Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of pcdh9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1)

American Journal of Medical Genetics, Part A

Volumn 149, Issue 5, 2009, Pages 906-913

  Grati, Francesca R ^a,d   Lesperance, Marci M ^b   De Toffol, Simona ^a   Chinetti, Sara ^a   Selicorni, Angelo ^c   Emery, Sarah ^b   Grimi, Beatrice ^a   Dulcetti, Francesca ^a   Malvestiti, Barbara ^a   Taylor, Joseph ^c   Milani, Silvia ^a   Ruggeri, Anna M ^a   Maggi, Federico ^a   Simoni, Giuseppe ^a  

^a TOMA Advanced Biomedical Assays SpA   (Italy)

^b UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^c I Clinica Pediatrica   (Italy)

^d Advanced Biomedical Assays SpA   (Italy)

Author keywords

Auditory neuropathy; AUNA1; Insertional translocation; PCDH9; Pure phenotypes

Indexed keywords

CADHERIN; PROTOCADHERIN 9; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CHILD; CHROMOSOME 13Q; CHROMOSOME 3; CHROMOSOME INSERTION; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; DNA SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; KARYOTYPE; MALE; MONOSOMY; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT TANDEM REPEAT; SINGLE NUCLEOTIDE POLYMORPHISM; TRISOMY; VESTIBULOCOCHLEAR NERVE DISEASE;

CADHERINS; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 3; DEAFNESS; HUMANS; MALE; MONOSOMY; MUTAGENESIS, INSERTIONAL; PEDIGREE; TRANSLOCATION, GENETIC; TRISOMY;

EID: 66849097992     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32754     Document Type: Article

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