Article
Auditory hair cell defects as potential cause for sensorineural deafness in Wolf-Hirschhorn syndrome.
Disease models & mechanisms - 1 Sept 2015
Ahmed Mohi, Ura Kiyoe, Streit Andrea
Abstract excerpt
WHSC1 is a histone methyltransferase (HMT) that catalyses the addition of methyl groups to lysine 36 on histone 3. In humans, WHSC1 haploinsufficiency is associated with all known cases of Wolf-Hirschhorn syndrome (WHS). The cardinal feature of WHS is a craniofacial dysmorphism, which is accompanied by sensorineural hearing loss in 15% of individuals with WHS. Here, we show that WHSC1-deficient mice display...
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