Novel FOXC2 missense mutation identified in patient with Lymphedema-distichiasis syndrome and review

M. T. Dellinger; K. Thome; M. J. Bernas; R. P. Erickson; Marlys Hearst Witte

Novel FOXC2 missense mutation identified in patient with Lymphedema-distichiasis syndrome and review

M. T. Dellinger, K. Thome, M. J. Bernas, R. P. Erickson, Marlys Hearst Witte

Research output: Contribution to journal › Review article › peer-review

Abstract

Lymphedema-distichiasis (OMIM 153400) is a dominantly inherited disorder typically presenting with lymphedema at puberty and distichiasis at birth. The condition has been decisively linked to mutations in the forkhead transcription factor FOXC2 which have been primarily frameshift mutations truncating the protein. We report here a novel missense mutation along with a literature review summarizing reported mutations.

Original language	English (US)
Pages (from-to)	98-102
Number of pages	5
Journal	Lymphology
Volume	41
Issue number	3
State	Published - Sep 2008

Keywords

FOXC2
Lymphedema-distichiasis
Primary lymphedema

ASJC Scopus subject areas

Immunology and Allergy
Hematology

Cite this

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title = "Novel FOXC2 missense mutation identified in patient with Lymphedema-distichiasis syndrome and review",

abstract = "Lymphedema-distichiasis (OMIM 153400) is a dominantly inherited disorder typically presenting with lymphedema at puberty and distichiasis at birth. The condition has been decisively linked to mutations in the forkhead transcription factor FOXC2 which have been primarily frameshift mutations truncating the protein. We report here a novel missense mutation along with a literature review summarizing reported mutations.",

keywords = "FOXC2, Lymphedema-distichiasis, Primary lymphedema",

author = "Dellinger, {M. T.} and K. Thome and Bernas, {M. J.} and Erickson, {R. P.} and Witte, {Marlys Hearst}",

year = "2008",

month = sep,

language = "English (US)",

volume = "41",

pages = "98--102",

journal = "Lymphology",

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publisher = "International Society of Lymphology",

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TY - JOUR

T1 - Novel FOXC2 missense mutation identified in patient with Lymphedema-distichiasis syndrome and review

AU - Dellinger, M. T.

AU - Thome, K.

AU - Bernas, M. J.

AU - Erickson, R. P.

AU - Witte, Marlys Hearst

PY - 2008/9

Y1 - 2008/9

N2 - Lymphedema-distichiasis (OMIM 153400) is a dominantly inherited disorder typically presenting with lymphedema at puberty and distichiasis at birth. The condition has been decisively linked to mutations in the forkhead transcription factor FOXC2 which have been primarily frameshift mutations truncating the protein. We report here a novel missense mutation along with a literature review summarizing reported mutations.

AB - Lymphedema-distichiasis (OMIM 153400) is a dominantly inherited disorder typically presenting with lymphedema at puberty and distichiasis at birth. The condition has been decisively linked to mutations in the forkhead transcription factor FOXC2 which have been primarily frameshift mutations truncating the protein. We report here a novel missense mutation along with a literature review summarizing reported mutations.

KW - FOXC2

KW - Lymphedema-distichiasis

KW - Primary lymphedema

UR - http://www.scopus.com/inward/record.url?scp=58749113281&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=58749113281&partnerID=8YFLogxK

M3 - Review article

C2 - 19013876

AN - SCOPUS:58749113281

SN - 0024-7766

VL - 41

SP - 98

EP - 102

JO - Lymphology

JF - Lymphology

IS - 3

ER -

Novel FOXC2 missense mutation identified in patient with Lymphedema-distichiasis syndrome and review

Abstract

Keywords

ASJC Scopus subject areas

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