Ophthalmic and molecular genetic findings in Kniest dysplasia.

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Evaluation of 10 AMD Associated Polymorphisms as a Cause of Choroidal Neovascularization in Highly Myopic Eyes

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Ophthalmic and molecular genetic findings in Kniest dysplasia.

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Ophthalmic and molecular genetic findings in Kniest dysplasia.

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Ophthalmic and molecular genetic findings in Kniest dysplasia.

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Ophthalmic and molecular genetic findings in Kniest dysplasia.

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P1476

Ophthalmic and molecular genetic findings in Kniest dysplasia

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A J Richards

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A M McNinch

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A V Poulson

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G S Fincham

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M P Snead

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P I Sergouniotis

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P2860

Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist

Small deletions in the type II collagen triple helix produce kniest dysplasia

Uncombable hair (cheveux incoiffables, pili trianguli et canaliculi) syndrome: brief review and role of scanning electron microscopy in diagnosis

Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation

Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasia

RNA and disease

Listening to silence and understanding nonsense: exonic mutations that affect splicing

Small deletions in the type II collagen triple helix produce Kniest dysplasia

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia

A genomic view of mosaicism and human disease.

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eye.2014.334

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475-482

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scholarly article

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10.1038/EYE.2014.334

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Corinne M Spickett

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2015-01-16T00:00:00Z

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25592122

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Ophthalmic and molecular genetic findings in Kniest dysplasia.

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P2860

P2860

Ophthalmic and molecular genetic findings in Kniest dysplasia.

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type

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P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

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P2888

P304

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P356

P433

P478

P50

P577

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P932