Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome

Hans Ulrik Moller; Hans C Fledelius; Dianna M Milewicz; Ellen S Regalado; John R Ostergaard

doi:10.1136/bjophthalmol-2011-301462

Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome

Hans Ulrik Moller, Hans C Fledelius, Dianna M Milewicz, Ellen S Regalado, John R Ostergaard

Department of Ophthalmology

34 Citations (Scopus)

Abstract

A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth.

Original language	English
Journal	British Journal of Ophthalmology
Volume	96
Issue number	9
Pages (from-to)	1227-31
Number of pages	5
ISSN	0007-1161
DOIs	https://doi.org/10.1136/bjophthalmol-2011-301462
Publication status	Published - 2012

Keywords

Actins
Adolescent
Child
Child, Preschool
Denmark
Ductus Arteriosus, Patent
Fatal Outcome
Humans
Muscle, Smooth
Mutation, Missense
Mydriasis
Pupil Disorders
Retinal Artery
Syndrome

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10.1136/bjophthalmol-2011-301462

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title = "Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome",

abstract = "A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth.",

keywords = "Actins, Adolescent, Child, Child, Preschool, Denmark, Ductus Arteriosus, Patent, Fatal Outcome, Humans, Muscle, Smooth, Mutation, Missense, Mydriasis, Pupil Disorders, Retinal Artery, Syndrome",

author = "Moller, \{Hans Ulrik\} and Fledelius, \{Hans C\} and Milewicz, \{Dianna M\} and Regalado, \{Ellen S\} and Ostergaard, \{John R\}",

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AU - Moller, Hans Ulrik

AU - Fledelius, Hans C

AU - Milewicz, Dianna M

AU - Regalado, Ellen S

AU - Ostergaard, John R

PY - 2012

Y1 - 2012

N2 - A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth.

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KW - Adolescent

KW - Child

KW - Child, Preschool

KW - Denmark

KW - Ductus Arteriosus, Patent

KW - Fatal Outcome

KW - Humans

KW - Muscle, Smooth

KW - Mutation, Missense

KW - Mydriasis

KW - Pupil Disorders

KW - Retinal Artery

KW - Syndrome

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DO - 10.1136/bjophthalmol-2011-301462

M3 - Journal article

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EP - 1231

JO - British Journal of Ophthalmology

JF - British Journal of Ophthalmology

IS - 9

ER -

Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome

Abstract

Keywords

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