A NOVEL FLT4 GENE MUTATION AND MR LYMPHANGIOGRAPHY IN A CHINESE FAMILY WITH MILROY DISEASE.
Identifieur interne : 002251 ( Main/Exploration ); précédent : 002250; suivant : 002252A NOVEL FLT4 GENE MUTATION AND MR LYMPHANGIOGRAPHY IN A CHINESE FAMILY WITH MILROY DISEASE.
Auteurs : N F Liu ; Z. Yu ; Y. Luo ; D. Sun ; Z. YanSource :
- Lymphology [ 0024-7766 ] ; 2015.
Descripteurs français
- KwdFr :
- Adulte, Analyse de mutations d'ADN, Chine, Enfant d'âge préscolaire, Femelle, Humains, Hérédité, Imagerie par résonance magnétique, Lymphoedème (anatomopathologie), Lymphoedème (ethnologie), Lymphoedème (génétique), Lymphographie (), Membre inférieur (anatomopathologie), Mutation, Mâle, Pedigree, Phénotype, Population d'origine asiatique (génétique), Prédisposition génétique à une maladie, Récepteur-3 au facteur croissance endothéliale vasculaire (génétique), Valeur prédictive des tests.
- MESH :
- anatomopathologie : Lymphoedème, Membre inférieur.
- ethnologie : Lymphoedème.
- génétique : Lymphoedème, Population d'origine asiatique, Récepteur-3 au facteur croissance endothéliale vasculaire.
- Adulte, Analyse de mutations d'ADN, Chine, Enfant d'âge préscolaire, Femelle, Humains, Hérédité, Imagerie par résonance magnétique, Lymphographie, Mutation, Mâle, Pedigree, Phénotype, Prédisposition génétique à une maladie, Valeur prédictive des tests.
English descriptors
- KwdEn :
- Adult, Asian Continental Ancestry Group (genetics), Child, Preschool, China, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Heredity, Humans, Lower Extremity (pathology), Lymphedema (ethnology), Lymphedema (genetics), Lymphedema (pathology), Lymphography (methods), Magnetic Resonance Imaging, Male, Mutation, Pedigree, Phenotype, Predictive Value of Tests, Vascular Endothelial Growth Factor Receptor-3 (genetics).
- MESH :
- chemical , genetics : Vascular Endothelial Growth Factor Receptor-3.
- ethnology : Lymphedema.
- genetics : Asian Continental Ancestry Group, Lymphedema.
- methods : Lymphography.
- pathology : Lower Extremity, Lymphedema.
- Adult, Child, Preschool, China, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Heredity, Humans, Magnetic Resonance Imaging, Male, Mutation, Pedigree, Phenotype, Predictive Value of Tests.
Abstract
Milroy disease is a congenital onset lymphedema linked to FLT4 gene mutations in the tyrosine kinase domain. So far, a total of 59 different FLT4 variants have been identified. Here, we report a novel FLT4 gene mutation in a Chinese family with Milroy disease and present their clinical symptoms and MR lymphangiographic findings.
PubMed: 26714373
Affiliations:
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Yan</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2015">2015</date><idno type="RBID">pubmed:26714373</idno><idno type="pmid">26714373</idno><idno type="wicri:Area/PubMed/Corpus">000A82</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000A82</idno><idno type="wicri:Area/PubMed/Curation">000A82</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000A82</idno><idno type="wicri:Area/PubMed/Checkpoint">000A82</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">000A82</idno><idno type="wicri:Area/Ncbi/Merge">007C79</idno><idno type="wicri:Area/Ncbi/Curation">007C79</idno><idno type="wicri:Area/Ncbi/Checkpoint">007C79</idno><idno type="wicri:doubleKey">0024-7766:2015:Liu N:a:novel:flt</idno><idno type="wicri:Area/Main/Merge">002254</idno><idno type="wicri:Area/Main/Curation">002251</idno><idno type="wicri:Area/Main/Exploration">002251</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">A NOVEL FLT4 GENE MUTATION AND MR LYMPHANGIOGRAPHY IN A CHINESE FAMILY WITH MILROY DISEASE.</title><author><name sortKey="Liu, N F" sort="Liu, N F" uniqKey="Liu N" first="N F" last="Liu">N F Liu</name></author><author><name sortKey="Yu, Z" sort="Yu, Z" uniqKey="Yu Z" first="Z" last="Yu">Z. Yu</name></author><author><name sortKey="Luo, Y" sort="Luo, Y" uniqKey="Luo Y" first="Y" last="Luo">Y. Luo</name></author><author><name sortKey="Sun, D" sort="Sun, D" uniqKey="Sun D" first="D" last="Sun">D. Sun</name></author><author><name sortKey="Yan, Z" sort="Yan, Z" uniqKey="Yan Z" first="Z" last="Yan">Z. Yan</name></author></analytic><series><title level="j">Lymphology</title><idno type="ISSN">0024-7766</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Asian Continental Ancestry Group (genetics)</term><term>Child, Preschool</term><term>China</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Heredity</term><term>Humans</term><term>Lower Extremity (pathology)</term><term>Lymphedema (ethnology)</term><term>Lymphedema (genetics)</term><term>Lymphedema (pathology)</term><term>Lymphography (methods)</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Predictive Value of Tests</term><term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adulte</term><term>Analyse de mutations d'ADN</term><term>Chine</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Hérédité</term><term>Imagerie par résonance magnétique</term><term>Lymphoedème (anatomopathologie)</term><term>Lymphoedème (ethnologie)</term><term>Lymphoedème (génétique)</term><term>Lymphographie ()</term><term>Membre inférieur (anatomopathologie)</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term><term>Population d'origine asiatique (génétique)</term><term>Prédisposition génétique à une maladie</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire (génétique)</term><term>Valeur prédictive des tests</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vascular Endothelial Growth Factor Receptor-3</term></keywords><keywords scheme="MESH" qualifier="anatomopathologie" xml:lang="fr"><term>Lymphoedème</term><term>Membre inférieur</term></keywords><keywords scheme="MESH" qualifier="ethnologie" xml:lang="fr"><term>Lymphoedème</term></keywords><keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Asian Continental Ancestry Group</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Lymphoedème</term><term>Population d'origine asiatique</term><term>Récepteur-3 au facteur croissance endothéliale vasculaire</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Lymphography</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lower Extremity</term><term>Lymphedema</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Child, Preschool</term><term>China</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Heredity</term><term>Humans</term><term>Magnetic Resonance Imaging</term><term>Male</term><term>Mutation</term><term>Pedigree</term><term>Phenotype</term><term>Predictive Value of Tests</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adulte</term><term>Analyse de mutations d'ADN</term><term>Chine</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Humains</term><term>Hérédité</term><term>Imagerie par résonance magnétique</term><term>Lymphographie</term><term>Mutation</term><term>Mâle</term><term>Pedigree</term><term>Phénotype</term><term>Prédisposition génétique à une maladie</term><term>Valeur prédictive des tests</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Milroy disease is a congenital onset lymphedema linked to FLT4 gene mutations in the tyrosine kinase domain. So far, a total of 59 different FLT4 variants have been identified. Here, we report a novel FLT4 gene mutation in a Chinese family with Milroy disease and present their clinical symptoms and MR lymphangiographic findings.</div></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Liu, N F" sort="Liu, N F" uniqKey="Liu N" first="N F" last="Liu">N F Liu</name><name sortKey="Luo, Y" sort="Luo, Y" uniqKey="Luo Y" first="Y" last="Luo">Y. Luo</name><name sortKey="Sun, D" sort="Sun, D" uniqKey="Sun D" first="D" last="Sun">D. Sun</name><name sortKey="Yan, Z" sort="Yan, Z" uniqKey="Yan Z" first="Z" last="Yan">Z. Yan</name><name sortKey="Yu, Z" sort="Yu, Z" uniqKey="Yu Z" first="Z" last="Yu">Z. Yu</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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