Associated Papers
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.
Littink KW et al.
Investigative Ophthalmology & Visual Science, 2009
Deficiency of PORCN, a regulator of Wnt signaling, is associated with focal dermal hypoplasia.
Grzeschik KH et al.
Nature Genetics, 2007
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