Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.

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Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.

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2017 nî lūn-bûn

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2017年学术文章

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Intrafamilial variability in s ...... by a novel variation in OTX2.

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Intrafamilial variability in s ...... by a novel variation in OTX2.

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Intrafamilial variability in s ...... by a novel variation in OTX2.

@en

Intrafamilial variability in s ...... by a novel variation in OTX2.

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Intrafamilial variability in s ...... by a novel variation in OTX2.

@en

Intrafamilial variability in s ...... by a novel variation in OTX2.

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P1476

Intrafamilial variability in s ...... d by a novel variation in OTX2

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P2093

Anju Shukla

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Puneeth H Somashekar

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P2860

Heterozygous mutations of OTX2 cause severe ocular malformations

A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency

OTX2 activates the molecular network underlying retina pigment epithelium differentiation

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.

The genetics of anophthalmia and microphthalmia.

Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.

Anophthalmos, microphthalmos, and typical coloboma in the United Kingdom: a prospective study of incidence and risk.

OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.

Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.

Expression of the homeobox genes PAX6, OTX2, and OTX1 in the early human fetal retina.

P304

533-536

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scholarly article

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10.1080/13816810.2017.1301967

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P433

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P478

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P50

Katta Mohan Girisha

P577

2017-04-07T00:00:00Z

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P698

28388256

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