Article
Novel FAM126A mutations in hypomyelination and congenital cataract disease.
Biochemical and biophysical research communications - 27 Sept 2013
Traverso M, Assereto S, Gazzerro E, Savasta S, Abdalla E M, Rossi A, Baldassari S, Fruscione F, Ruffinazzi G, Fassad M R, El Beheiry A, Minetti C, Zara F, Biancheri R
Abstract excerpt
Hypomyelination and congenital cataract (HCC, OMIM #610532) is a rare autosomal recessive disorder due to FAM126A mutations characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in the central and peripheral nervous system. We have identified two novel mutations in three affected members of two unrelated families. Two sibs harbouring a microdeletion causing a premature...
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