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Lymphedema distichiasis syndrome
Known as:
Hereditary lymphedema-distichiasis syndrome
, Lymphedema with distichiasis
, Lymphedema-Distichiasis Syndrome
An autosomal dominant genetic disorder caused by mutation(s) in the FOXC2 gene, encoding forkhead box protein C2. The condition is characterized by…
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National Institutes of Health
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Related topics
Related topics
15 relations
Autosomal dominant inheritance
Blepharoptosis
Conjunctivitis
Corneal Ulcer
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Broader (2)
Eyelash
Lymphedema
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
[Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome].
Yuefang Liu
,
J. Ding
,
+6 authors
Qiong Pan
Zhonghua yi xue yi chuan xue za zhi = Zhonghua…
2020
Corpus ID: 214679722
OBJECTIVE To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS). METHODS Peripheral…
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2018
2018
Novel FOXC2 Mutation and Distichiasis in a Patient With Lymphedema-Distichiasis Syndrome.
Matthew A. De Niear
,
M. Breazzano
,
L. Mawn
Ophthalmic Plastic and Reconstructive Surgery
2018
Corpus ID: 46744505
A 4 year-old-boy was referred for distichiasis of the upper and lower lids of both eyes that had been present since at least 1…
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2017
2017
Renal anomalies and lymphedema distichiasis syndrome. A rare association?
Gabriela E. Jones
,
A. Richmond
,
+5 authors
P. Vasudevan
American Journal of Medical Genetics. Part A
2017
Corpus ID: 25700858
Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema…
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2015
2015
A novel FOXC2 mutation in spinal extradural arachnoid cyst
Y. Ogura
,
S. Fujibayashi
,
+9 authors
S. Ikegawa
Human Genome Variation
2015
Corpus ID: 18589630
Spinal extradural arachnoid cyst (SEDAC) is a cyst in the spinal canal, which causes spinal cord compression and subsequent…
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2013
2013
A novel complex insertion-deletion mutation in the FOXC2 gene in a Japanese patient with lymphedema-distichiasis syndrome.
M. Itoh
,
H. Nakagawa
EJD. European journal of dermatology
2013
Corpus ID: 38361209
ejd.2013.2022 Auteur(s) : Munenari Itoh seafowl@jikei.ac.jp, Hidemi Nakagawa Department of Dermatology The Jikei University…
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2010
2010
A Case of Lymphedema-Distichiasis Syndrome Carrying a New de novo Frameshift FOXC2 Mutation
Antonella Fabretto
,
A. Shardlow
,
F. Faletra
,
L. Lepore
,
U. Hladnik
,
P. Gasparini
Ophthalmic Genetics
2010
Corpus ID: 22263077
Purpose: Lymphedema-Distichiasis (LD, OMIM 153400) is an autosomal dominant disorder with variable expression. The mutated gene…
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2010
2010
Different lymphscintigraphic patterns in patients with lymphedema distichiasis.
E. Sutkowska
,
A. Bátor
,
K. Trompeta
,
A. Szuba
Lymphology
2010
Corpus ID: 40754432
Mutation of the transcription factor FOXC2 gene has been identified as the cause of lymphedema-distichiasis syndrome (LD…
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2010
2010
Rare association of immunoglobulin A nephropathy and lymphedema-distichiasis syndrome.
M. Haran
,
A. Lodha
,
M. Rose
,
S. Greenberg
American Journal of the Medical Sciences
2010
Corpus ID: 34272882
Immunoglobulin A nephropathy is the most common primary glomerulonephritis worldwide. The pathogenesis is still unknown and newer…
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2004
2004
Distichiasis and dysplastic eyelashes in trachomatous trichiasis cases in Oman: a case series.
R. Khandekar
,
S. Kidiyur
,
A. Al-Raisi
Eastern Mediterranean health journal = La revue…
2004
Corpus ID: 46416395
The study was a prospective evaluation of the prevalence of distichiasis and/or dysplastic eyelashes among trachomatous…
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1977
1977
Surgical repair for distichiasis.
R. Anderson
A M A Archives of Ophthalmology
1977
Corpus ID: 44328392
To the Editor .—The article "Surgical Repair for Distichiasis, Trichiasis, and Entropion" by William Fein that appeared in…
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