<style face="normal" font="default" size="100%">Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.</style>

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<style face="normal" font="default" size="100%">Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.</style>

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<style face="normal" font="default" size="100%">Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.</style>

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<style face="normal" font="default" size="100%">The EGR2 gene is involved in axonal Charcot-Marie-Tooth disease.</style>

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<style face="normal" font="default" size="100%">Re-evaluation casts doubt on the pathogenicity of homozygous USH2A p.C759F.</style>

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<style face="normal" font="default" size="100%">Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations.</style>

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<style face="normal" font="default" size="100%">Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies.</style>

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<style face="normal" font="default" size="100%">Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree.</style>

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<style face="normal" font="default" size="100%">Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa.</style>