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Autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three-generation family

Autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three-generation family
Autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three-generation family
A novel phenotype in a 3-generation family with early-onset aponeurotic ptosis and corneal limbal vascularization is described. Karyotype analysis was normal in the proband, and autosomal dominant transmission is demonstrated
blepharoptosis, eye
0740-9303
484-486
Ismail, A.R.
2b06e33c-cbac-4af2-8447-a6a256bc3793
Cates, C.A.
ce052aae-3735-4f9c-89e0-4db0d9d33452
Mullins, R.F.
467f59d5-f246-4698-8de0-c337644e2e2e
Manners, R.M.
2eef9432-7bbe-4701-b616-44d28d6f81fc
Lotery, A.J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514
Ismail, A.R.
2b06e33c-cbac-4af2-8447-a6a256bc3793
Cates, C.A.
ce052aae-3735-4f9c-89e0-4db0d9d33452
Mullins, R.F.
467f59d5-f246-4698-8de0-c337644e2e2e
Manners, R.M.
2eef9432-7bbe-4701-b616-44d28d6f81fc
Lotery, A.J.
5ecc2d2d-d0b4-468f-ad2c-df7156f8e514

Ismail, A.R., Cates, C.A., Mullins, R.F., Manners, R.M. and Lotery, A.J. (2007) Autosomal dominant early onset aponeurotic ptosis and corneal limbal vascularization in a three-generation family. Ophthalmic Plastic and Reconstructive Surgery, 23 (6), 484-486.

Record type: Article

Abstract

A novel phenotype in a 3-generation family with early-onset aponeurotic ptosis and corneal limbal vascularization is described. Karyotype analysis was normal in the proband, and autosomal dominant transmission is demonstrated

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Published date: 2007
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Keywords: blepharoptosis, eye
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Identifiers

Local EPrints ID: 62426
URI: http://eprints.soton.ac.uk/id/eprint/62426
ISSN: 0740-9303
PURE UUID: 31a72122-7845-4225-91eb-96cab8c6d230
ORCID for A.J. Lotery: ORCID iD orcid.org/0000-0001-5541-4305

Catalogue record

Date deposited: 12 Sep 2008
Last modified: 09 Jan 2022 03:12

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Contributors

Author: A.R. Ismail
Author: C.A. Cates
Author: R.F. Mullins
Author: R.M. Manners
Author: A.J. Lotery ORCID iD

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