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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2005-1-19
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pubmed:databankReference |
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pubmed:abstractText |
Despite the identification of mutations in the connexin 26 (GJB2) gene as the most common cause of recessive nonsyndromic hearing loss, the pattern of hearing impairment with these mutations remains inconsistent. Recently a deletion encompassing the GJB6 gene was identified and hypothesized to also contribute to hearing loss. We hereby describe the hearing impairment in Dutch patients with biallelic connexin 26 (GJB2) and GJB2+connexin 30 (GJB6) mutations.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0165-5876
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
69
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
165-74
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15656949-Adolescent,
pubmed-meshheading:15656949-Adult,
pubmed-meshheading:15656949-Amino Acid Sequence,
pubmed-meshheading:15656949-Audiometry,
pubmed-meshheading:15656949-Child,
pubmed-meshheading:15656949-Child, Preschool,
pubmed-meshheading:15656949-Connexins,
pubmed-meshheading:15656949-Female,
pubmed-meshheading:15656949-Follow-Up Studies,
pubmed-meshheading:15656949-Genotype,
pubmed-meshheading:15656949-Hearing Loss,
pubmed-meshheading:15656949-Heterozygote,
pubmed-meshheading:15656949-Humans,
pubmed-meshheading:15656949-Male,
pubmed-meshheading:15656949-Molecular Sequence Data,
pubmed-meshheading:15656949-Mutation,
pubmed-meshheading:15656949-Netherlands,
pubmed-meshheading:15656949-Polymorphism, Genetic,
pubmed-meshheading:15656949-Retrospective Studies,
pubmed-meshheading:15656949-Severity of Illness Index
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pubmed:year |
2005
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pubmed:articleTitle |
Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.
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pubmed:affiliation |
Department of Epidemiology and Biostatistics, Genetic Epidemiology Unit, Erasmus Medical Center Rotterdam, Dr. Molewaterplein 50, 3015 GE Rotterdam, The Netherlands.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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