Nanophthalmos: A Review of the Clinical Spectrum and Genetics.

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Nanophthalmos: A Review of the Clinical Spectrum and Genetics.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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2018年學術文章

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name

Nanophthalmos: A Review of the Clinical Spectrum and Genetics.

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Nanophthalmos: A Review of the Clinical Spectrum and Genetics.

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Item

label

Nanophthalmos: A Review of the Clinical Spectrum and Genetics.

@en

Nanophthalmos: A Review of the Clinical Spectrum and Genetics.

@nl

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Nanophthalmos: A Review of the Clinical Spectrum and Genetics.

@en

Nanophthalmos: A Review of the Clinical Spectrum and Genetics.

@nl

P1476

Nanophthalmos: A Review of the Clinical Spectrum and Genetics.

@en

P2093

Bernadete M Ayres

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Sayoko E Moroi

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Thais Andrade

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P2860

Anophthalmia and microphthalmia

Molecular cloning and characterization of MFRP, a novel gene encoding a membrane-type Frizzled-related protein

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease

Identification of the gene responsible for Best macular dystrophy

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.

Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination

Mutations in the CRB1 gene cause Leber congenital amaurosis

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6

Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice

P304

2735465

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P31

scholarly article

P356

10.1155/2018/2735465

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P478

2018

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P50

Pedro Carlos Carricondo

Lev Prasov

P577

2018-05-09T00:00:00Z

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P698

29862063

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P932

5971257

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