Condition: Senter syndrome


rs104894408 in GJB2 gene and Senter syndrome PMID 12752120 2003 Novel mutations in GJB2 encoding connexin-26 in Japanese patients with keratitis-ichthyosis-deafness syndrome.

PMID 12548749 2003 De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome.

PMID 11912510 2002 Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.

PMID 12752120 2003 We identified two heterozygous mis-sense mutations (D50Y, D50N) in the GJB2 gene in three Japanese patients with KID syndrome.

PMID 9336442 1997 Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

PMID 10376574 1999 Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

PMID 18294064 2007 Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.

PMID 12172392 2002 GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.

PMID 10713883 2000 High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

PMID 9328482 1997 Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.

PMID 9285800 1997 Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

PMID 17666888 2007 A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.