Genome-wide SNP genotyping identifies the Stereocilin (STRC) gene as a major contributor to pediatric bilateral sensorineural hearing impairment

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 2, 2012, Pages 298-308

  Francey, Lauren J ^a   Conlin, Laura K ^a   Kadesch, Hanna E ^a   Clark, Dinah ^a   Berrodin, Donna ^a   Sun, Yi ^a   Glessner, Joe ^a   Hakonarson, Hakon ^a   Jalas, Chaim ^b   Landau, Chaim ^b   Spinner, Nancy B ^a   Kenna, Margaret ^c   Sagi, Michal ^d   Rehm, Heidi L ^c,e   Krantz, Ian D ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b Bonei Olam Center for Rare Jewish Genetic Disorders   (United States)

^c BOSTON CHILDREN S HOSPITAL   (United States)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^e HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Bilateral sensorineural hearing loss; Chr15q15.3; CNV; Copy number variation; DFNB16; SNHI; SNP genotyping array; Stereocilin; STRC

Indexed keywords

STEREOCILIN; STRUCTURAL PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 15Q; CHROMOSOME DELETION; COHORT ANALYSIS; COPY NUMBER VARIATION; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC RISK; GENOTYPE; GJB2 GENE; HUMAN; MAJOR CLINICAL STUDY; MALE; NEWBORN; NONSYNDROMIC BILATERAL SENSORINEURAL HEARING IMPAIRMENT; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOGENE; SCHOOL CHILD; SEQUENCE HOMOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; STRC GENE;

CONNEXINS; GENE DOSAGE; GENES, RECESSIVE; GENOME-WIDE ASSOCIATION STUDY; HEARING LOSS, BILATERAL; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS; SEQUENCE DELETION;

EID: 84856211646     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34391     Document Type: Article

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