Associated Papers
Variants of anterior segment dysgenesis and cerebral involvement in a large family with a novel COL4A1 mutation.
Rødahl E et al.
American Journal of Ophthalmology, 2013
No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome.
Kuniba H et al.
American Journal of Medical Genetics. Part A, 2008
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