Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

Genetics in Medicine

Volumn 12, Issue 8, 2010, Pages 512-516

  Kimberling, William J ^a,b   Hildebrand, Michael S ^b   Shearer, A Eliot ^b   Jensen, Maren L ^a   Halder, Jennifer A ^b   Trzupek, Karmen ^c   Cohn, Edward S ^a   Weleber, Richard G ^d   Stone, Edwin M ^b   Smith, Richard J H ^b  

^a BOYS TOWN NATIONAL RESEARCH HOSPITAL   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c Hear See Hope Foundation   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

DNA screening; hearing loss; newborn hearing screening; pediatrics; prevalence; retinitis pigmentosa; Usher syndrome

Indexed keywords

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUDITORY SCREENING; EXON; GENE LOCUS; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HEARING IMPAIRMENT; HUMAN; MAJOR CLINICAL STUDY; NEWBORN SCREENING; USHER SYNDROME;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; CADHERINS; CONNEXINS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC TESTING; HUMANS; MALE; MICROARRAY ANALYSIS; MUTATION; MYOSINS; OREGON; PREVALENCE; QUESTIONNAIRES; SEQUENCE ANALYSIS, DNA; USHER SYNDROMES; YOUNG ADULT;

EID: 77955662426     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e3181e5afb8     Document Type: Article

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