X-linked deafness-2 (DFNX2) phenotype associated with a paracentric inversion upstream of POU3F4

American Journal of Audiology

Volumn 23, Issue 1, 2014, Pages 1-6

  Anger, Gregory J ^a,b   Crocker, Susan ^a,b   McKenzie, Kyle ^b   Brown, Kerry K ^c,d   Morton, Cynthia C ^c,d   Harrison, Karen ^e   MacKenzie, Jennifer J ^a,b  

^a QUEEN S UNIVERSITY   (Canada)

^b KINGSTON GENERAL HOSPITAL   (Canada)

^c HARVARD MEDICAL SCHOOL   (United States)

^d BRIGHAM AND WOMEN S HOSPITAL   (United States)

^e IWK HEALTH CENTRE   (Canada)

Author keywords

DFNX2; Hereditary deafness; POU3F4; Sensorineural hearing loss

Indexed keywords

POU3F4 PROTEIN, HUMAN; TRANSCRIPTION FACTOR POU;

CASE REPORT; CHILD; CHROMOSOME INVERSION; CONDUCTION DEAFNESS; GENETICS; GENOTYPE; HUMAN; MALE; PATHOPHYSIOLOGY; PERCEPTION DEAFNESS; PHENOTYPE; X CHROMOSOME; X CHROMOSOME LINKED DISORDER;

CHILD; CHROMOSOME INVERSION; CHROMOSOMES, HUMAN, X; GENETIC DISEASES, X-LINKED; GENOTYPE; HEARING LOSS, CONDUCTIVE; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; PHENOTYPE; POU DOMAIN FACTORS;

EID: 84897463425     PISSN: 10590889     EISSN: None     Source Type: Journal    
DOI: 10.1044/1059-0889(2013/13-0018)     Document Type: Article

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