Genetic analysis of PAX3 for diagnosis of Waardenburg syndrome type i

Acta Oto-Laryngologica

Volumn 133, Issue 4, 2013, Pages 345-351

  Matsunaga, Tatsuo ^a   Mutai, Hideki ^a   Namba, Kazunori ^a   Morita, Noriko ^b   Masuda, Sawako ^c  

^a National Hospital Organization   (Japan)

^b TEIKYO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c MIE NATIONAL HOSPITAL   (Japan)

Author keywords

Clinical diagnosis; Dystopia canthorum; Hearing loss; MLPA; Mutation; Pigmentary disorder

Indexed keywords

TRANSCRIPTION FACTOR PAX3;

ARTICLE; CHILD; CLINICAL EVALUATION; CONTROLLED STUDY; DNA BINDING; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HEARING; HUMAN; INFANT; MALE; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PURE TONE AUDIOMETRY; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; WAARDENBURG SYNDROME;

CASE-CONTROL STUDIES; CHILD, PRESCHOOL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HETEROZYGOTE; HUMANS; INFANT; JAPAN; MALE; MUTATION, MISSENSE; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; REAL-TIME POLYMERASE CHAIN REACTION; WAARDENBURG SYNDROME;

EID: 84877912490     PISSN: 00016489     EISSN: 16512553     Source Type: Journal    
DOI: 10.3109/00016489.2012.744470     Document Type: Article

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