Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndromeLarge deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.Expanding the spectrum of FOXC1 and PITX2 mutations and copy nnumber changes in patients with anterior segment malformations.
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E. De Baere