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A novel X-linked dominant condition: X-linked congenital isolated ptosis

A novel X-linked dominant condition: X-linked congenital isolated ptosis
A novel X-linked dominant condition: X-linked congenital isolated ptosis
We present a large family with a previously undescribed condition: X-linked dominant congenital bilateral isolated ptosis. Linkage analysis defined a critical region between Xq24 and Xq27.1, with a maximum single-point LOD score of 2.88 at DXS1047 and DXS984. Male and female family members are equally affected, providing an example of an X-linked, truly dominant condition.
0002-9297
1455-1460
Mc Mullan, Tristan F. W.
326b1c5e-84b1-4abf-9f6a-0ecae7271f12
Collins, Andrew R.
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Tyers, Anthony G.
6cb4bd6f-853d-4d96-b53e-9025127729bc
Robinson, David O.
6b7e8cdc-b9c4-4ecf-a344-1bf0ae990f8a
Mc Mullan, Tristan F. W.
326b1c5e-84b1-4abf-9f6a-0ecae7271f12
Collins, Andrew R.
7daa83eb-0b21-43b2-af1a-e38fb36e2a64
Tyers, Anthony G.
6cb4bd6f-853d-4d96-b53e-9025127729bc
Robinson, David O.
6b7e8cdc-b9c4-4ecf-a344-1bf0ae990f8a

Mc Mullan, Tristan F. W., Collins, Andrew R., Tyers, Anthony G. and Robinson, David O. (2000) A novel X-linked dominant condition: X-linked congenital isolated ptosis. American Journal of Human Genetics, 66 (4), 1455-1460. (doi:10.1086/302860).

Record type: Article

Abstract

We present a large family with a previously undescribed condition: X-linked dominant congenital bilateral isolated ptosis. Linkage analysis defined a critical region between Xq24 and Xq27.1, with a maximum single-point LOD score of 2.88 at DXS1047 and DXS984. Male and female family members are equally affected, providing an example of an X-linked, truly dominant condition.

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Published date: 1 April 2000
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Identifiers

Local EPrints ID: 470783
URI: http://eprints.soton.ac.uk/id/eprint/470783
DOI: doi:10.1086/302860
ISSN: 0002-9297
PURE UUID: cbc3ad5b-34e5-4fff-bd3a-f2f44477917c
ORCID for Andrew R. Collins: ORCID iD orcid.org/0000-0001-7108-0771

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Date deposited: 20 Oct 2022 16:32
Last modified: 17 Mar 2024 02:37

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Contributors

Author: Tristan F. W. Mc Mullan
Author: Andrew R. Collins ORCID iD
Author: Anthony G. Tyers
Author: David O. Robinson

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