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Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1
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- Journal Article
- A1
- open access
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease
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Biallelic loss-of-function variants in RAX2, encoding a homeobox-containing Rax transcription factor, cause autosomal recessive inherited retinal disease
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Mutations in IMPG1 cause vitelliform macular dystrophies