Clinical evaluation of DFN3 patients with deletions in the POU3F4 locus and detection of carrier female using MLPA

Clinical Genetics

Volumn 78, Issue 6, 2010, Pages 524-532

  Song, M H ^a,c   Lee, H K ^b   Choi, J Y ^c   Kim, S ^d   Bok, J ^c   Kim, U K ^b  

^a Kwandong University College of Medicine   (South Korea)

^b Kyungpook National University   (South Korea)

^c Yonsei University College of Medicine   (South Korea)

^d Korea Polar Research Institute (KOPRI)   (South Korea)

Author keywords

Deletion; DFN3; Hearing loss; MLPA; POU3F4

Indexed keywords

ANTIBIOTIC PROPHYLAXIS; ARTICLE; ATTENTION DISTURBANCE; AUDIOGRAPHY; AUDITORY REHABILITATION; CASE REPORT; CENTRAL HYPOTONIA; CHILD; CHROMOSOME XQ; CLINICAL EVALUATION; COCHLEA; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL DEAFNESS; FAMILY; FOLLOW UP; GENE; GENE DELETION; GENE LOCUS; GENE SEQUENCE; HEARING AID; HEARING IMPAIRMENT; HEARING LOSS; HETEROZYGOTE DETECTION; HUMAN; INFANTILE HYPOTONIA; INNER EAR MALFORMATION; KOREA; MALE; MENTAL DEFICIENCY; MIDDLE EAR EFFUSION; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; OTOSCOPY; PHYSIOTHERAPY; POLYMERASE CHAIN REACTION; POU3F4 GENE; PREDICTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPEECH DISORDER; SPEECH THERAPY; VESICOURETERAL REFLUX; X LINKED DEAFNESS TYPE 3;

CHILD; CHILD, PRESCHOOL; DEAFNESS; FEMALE; GENETIC DISEASES, X-LINKED; HEARING LOSS; HETEROZYGOTE DETECTION; HUMANS; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; POU DOMAIN FACTORS; SEQUENCE DELETION;

EID: 78149259652     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01426.x     Document Type: Article

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