Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy.

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Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy.

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2017 nî lūn-bûn

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Heterozygous mutation in OTX2 ...... phy with atypical maculopathy.

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Heterozygous mutation in OTX2 ...... phy with atypical maculopathy.

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Heterozygous mutation in OTX2 ...... phy with atypical maculopathy.

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Heterozygous mutation in OTX2 ...... phy with atypical maculopathy.

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Heterozygous mutation in OTX2 ...... phy with atypical maculopathy.

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Heterozygous mutation in OTX2 ...... phy with atypical maculopathy.

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P1476

Heterozygous mutation in OTX2 ...... phy with atypical maculopathy.

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Arif O Khan

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Christine Neuhaus

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Maram Ea Abdalla-Elsayed

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Patrik Schatz

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P2860

Otx2 gene deletion in adult mouse retina induces rapid RPE dystrophy and slow photoreceptor degeneration

Heterozygous mutations of OTX2 cause severe ocular malformations

Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

OTX2 represses myogenic and neuronal differentiation in medulloblastoma cells.

Donating Otx2 to support neighboring neuron survival.

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction.

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scholarly article

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2017-11-13T00:00:00Z

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29204067

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5693023

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