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The discovery of 139 Child Non-syndromic Intellectual Disability associated genetic copy number variation loci with biological insights
Gene copy biological
2014/12/5
Intellectual disability (ID) is a highly heritable mental disease. Especially, the
underlying molecular mechanism of non-syndromic intellectual disability (NSID), a
subtype of ID with no ...
Molecular Pathology of 6 Novel GJB2 Allelic Variants Detected in Familial and Sporadic Iranian Non Syndromic Hearing Loss Cases
Deafness Connexin 26 GJB2 gene Iran
2009/12/7
Background: Mutations of GJB2 gene encoding connexion 26 are the most common cause of hearing loss in many populations. A very wide spectrum of GJB2 gene mutations associated with hearing loss ha...
Autosomal Recessive and Sporadic Non Syndromic Hearing Loss and the Incidence of Cx26 Mutations in a Province of Iran
Connexin 26 GJB2 Deafness Autosomal recessive non syndromic hearing loss Iran
2010/2/4
Despite the enormous heterogeneity of genetic hearing loss, mutations in the GJB2 (connexin 26) gene located on “DFNB1” locus (13q12) account for up to 50% of cases of autosomal recessive non-syndromi...