GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.
Identifieur interne : 000537 ( Main/Exploration ); précédent : 000536; suivant : 000538GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.
Auteurs : Aniel Jessica Leticia Brambila-Tapia [Mexique] ; José Elías García-Ortiz [Mexique] ; Pascal Brouillard [Belgique] ; Ha-Long Nguyen [Belgique] ; Miikka Vikkula [Belgique] ; Blanca Estela Ríos-González [Mexique] ; Roberto De Jesús Sandoval-Mu Iz [Mexique] ; Ana Karen Sandoval-Talamantes [Mexique] ; Lucina Bobadilla-Morales [Mexique] ; Jorge Román Corona-Rivera [Mexique] ; Lisette Arnaud-Lopez [Mexique]Source :
- Hematology (Amsterdam, Netherlands) [ 1607-8454 ] ; 2017.
Abstract
GATA2 mutations are associated with several conditions, including Emberger syndrome which is the association of primary lymphedema with hematological anomalies and an increased risk for myelodysplasia and leukemia.
DOI: 10.1080/10245332.2017.1294551
PubMed: 28271814
Affiliations:
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</wicri:noRegion></affiliation></author><author><name sortKey="Garcia Ortiz, Jose Elias" sort="Garcia Ortiz, Jose Elias" uniqKey="Garcia Ortiz J" first="José Elías" last="García-Ortiz">José Elías García-Ortiz</name><affiliation wicri:level="1"><nlm:affiliation>b División de Genética, Centro de Investigación Biomédica de Occidente (CIBO) , Instituto Mexicano del Seguro Social (IMSS) , Guadalajara , Jalisco , México.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Mexique</country><wicri:regionArea>b División de Genética, Centro de Investigación Biomédica de Occidente (CIBO) , Instituto Mexicano del Seguro Social (IMSS) , Guadalajara , Jalisco </wicri:regionArea><wicri:noRegion>Jalisco </wicri:noRegion></affiliation></author><author><name sortKey="Brouillard, Pascal" sort="Brouillard, Pascal" uniqKey="Brouillard P" first="Pascal" last="Brouillard">Pascal Brouillard</name><affiliation wicri:level="1"><nlm:affiliation>c Human Molecular Genetics , de Duve Institute, Université catholique de Louvain , Brussels , Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>c Human Molecular Genetics , de Duve Institute, Université catholique de Louvain , Brussels </wicri:regionArea><wicri:noRegion>Brussels </wicri:noRegion></affiliation></author><author><name sortKey="Nguyen, Ha Long" sort="Nguyen, Ha Long" uniqKey="Nguyen H" first="Ha-Long" last="Nguyen">Ha-Long Nguyen</name><affiliation wicri:level="1"><nlm:affiliation>c Human Molecular Genetics , de Duve Institute, Université catholique de Louvain , Brussels , Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>c Human Molecular Genetics , de Duve Institute, Université catholique de Louvain , Brussels </wicri:regionArea><wicri:noRegion>Brussels </wicri:noRegion></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation wicri:level="1"><nlm:affiliation>c Human Molecular Genetics , de Duve Institute, Université catholique de Louvain , Brussels , Belgium.</nlm:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>c Human Molecular Genetics , de Duve Institute, Université catholique de Louvain , Brussels </wicri:regionArea><wicri:noRegion>Brussels </wicri:noRegion></affiliation></author><author><name sortKey="Rios Gonzalez, Blanca Estela" sort="Rios Gonzalez, Blanca Estela" uniqKey="Rios Gonzalez B" first="Blanca Estela" last="Ríos-González">Blanca Estela Ríos-González</name><affiliation wicri:level="1"><nlm:affiliation>e Unidad Médico Familiar #34 , Instituto Mexicano del Seguro Social (IMSS) , Guadalajara , Jalisco , México.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Mexique</country><wicri:regionArea>e Unidad Médico Familiar #34 , Instituto Mexicano del Seguro Social (IMSS) , Guadalajara , Jalisco </wicri:regionArea><wicri:noRegion>Jalisco </wicri:noRegion></affiliation></author><author><name sortKey="Sandoval Mu Iz, Roberto De Jesus" sort="Sandoval Mu Iz, Roberto De Jesus" uniqKey="Sandoval Mu Iz R" first="Roberto De Jesús" last="Sandoval-Mu Iz">Roberto De Jesús Sandoval-Mu Iz</name><affiliation wicri:level="1"><nlm:affiliation>f Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud (CUCS) , Universidad de Guadalajara , Guadalajara , Jalisco , México.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Mexique</country><wicri:regionArea>f Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud (CUCS) , Universidad de Guadalajara , Guadalajara , Jalisco </wicri:regionArea><wicri:noRegion>Jalisco </wicri:noRegion></affiliation></author><author><name sortKey="Sandoval Talamantes, Ana Karen" sort="Sandoval Talamantes, Ana Karen" uniqKey="Sandoval Talamantes A" first="Ana Karen" last="Sandoval-Talamantes">Ana Karen Sandoval-Talamantes</name><affiliation wicri:level="1"><nlm:affiliation>f Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud (CUCS) , Universidad de Guadalajara , Guadalajara , Jalisco , México.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Mexique</country><wicri:regionArea>f Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud (CUCS) , Universidad de Guadalajara , Guadalajara , Jalisco </wicri:regionArea><wicri:noRegion>Jalisco </wicri:noRegion></affiliation></author><author><name sortKey="Bobadilla Morales, Lucina" sort="Bobadilla Morales, Lucina" uniqKey="Bobadilla Morales L" first="Lucina" last="Bobadilla-Morales">Lucina Bobadilla-Morales</name><affiliation wicri:level="1"><nlm:affiliation>f Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud (CUCS) , Universidad de Guadalajara , Guadalajara , Jalisco , México.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Mexique</country><wicri:regionArea>f Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud (CUCS) , Universidad de Guadalajara , Guadalajara , Jalisco </wicri:regionArea><wicri:noRegion>Jalisco </wicri:noRegion></affiliation></author><author><name sortKey="Corona Rivera, Jorge Roman" sort="Corona Rivera, Jorge Roman" uniqKey="Corona Rivera J" first="Jorge Román" last="Corona-Rivera">Jorge Román Corona-Rivera</name><affiliation wicri:level="1"><nlm:affiliation>f Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud (CUCS) , Universidad de Guadalajara , Guadalajara , Jalisco , México.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Mexique</country><wicri:regionArea>f Doctorado en Genética Humana, Centro Universitario de Ciencias de la Salud (CUCS) , Universidad de Guadalajara , Guadalajara , Jalisco </wicri:regionArea><wicri:noRegion>Jalisco </wicri:noRegion></affiliation></author><author><name sortKey="Arnaud Lopez, Lisette" sort="Arnaud Lopez, Lisette" uniqKey="Arnaud Lopez L" first="Lisette" last="Arnaud-Lopez">Lisette Arnaud-Lopez</name><affiliation wicri:level="1"><nlm:affiliation>h Servicio de Genética, División de Pediatría , Hospital Civil de Guadalajara, 'Dr. Juan I. Menchaca' , Guadalajara , Jalisco , México.</nlm:affiliation><country xml:lang="fr" wicri:curation="lc">Mexique</country><wicri:regionArea>h Servicio de Genética, División de Pediatría , Hospital Civil de Guadalajara, 'Dr. Juan I. Menchaca' , Guadalajara , Jalisco </wicri:regionArea><wicri:noRegion>Jalisco </wicri:noRegion></affiliation></author></analytic><series><title level="j">Hematology (Amsterdam, Netherlands)</title><idno type="eISSN">1607-8454</idno><imprint><date when="2017" type="published">2017</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">GATA2 mutations are associated with several conditions, including Emberger syndrome which is the association of primary lymphedema with hematological anomalies and an increased risk for myelodysplasia and leukemia.</div></front></TEI><affiliations><list><country><li>Belgique</li><li>Mexique</li></country></list><tree><country name="Mexique"><noRegion><name sortKey="Brambila Tapia, Aniel Jessica Leticia" sort="Brambila Tapia, Aniel Jessica Leticia" uniqKey="Brambila Tapia A" first="Aniel Jessica Leticia" last="Brambila-Tapia">Aniel Jessica Leticia Brambila-Tapia</name></noRegion><name sortKey="Arnaud Lopez, Lisette" sort="Arnaud Lopez, Lisette" uniqKey="Arnaud Lopez L" first="Lisette" last="Arnaud-Lopez">Lisette Arnaud-Lopez</name><name sortKey="Bobadilla Morales, Lucina" sort="Bobadilla Morales, Lucina" uniqKey="Bobadilla Morales L" first="Lucina" last="Bobadilla-Morales">Lucina Bobadilla-Morales</name><name sortKey="Corona Rivera, Jorge Roman" sort="Corona Rivera, Jorge Roman" uniqKey="Corona Rivera J" first="Jorge Román" last="Corona-Rivera">Jorge Román Corona-Rivera</name><name sortKey="Garcia Ortiz, Jose Elias" sort="Garcia Ortiz, Jose Elias" uniqKey="Garcia Ortiz J" first="José Elías" last="García-Ortiz">José Elías García-Ortiz</name><name sortKey="Rios Gonzalez, Blanca Estela" sort="Rios Gonzalez, Blanca Estela" uniqKey="Rios Gonzalez B" first="Blanca Estela" last="Ríos-González">Blanca Estela Ríos-González</name><name sortKey="Sandoval Mu Iz, Roberto De Jesus" sort="Sandoval Mu Iz, Roberto De Jesus" uniqKey="Sandoval Mu Iz R" first="Roberto De Jesús" last="Sandoval-Mu Iz">Roberto De Jesús Sandoval-Mu Iz</name><name sortKey="Sandoval Talamantes, Ana Karen" sort="Sandoval Talamantes, Ana Karen" uniqKey="Sandoval Talamantes A" first="Ana Karen" last="Sandoval-Talamantes">Ana Karen Sandoval-Talamantes</name></country><country name="Belgique"><noRegion><name sortKey="Brouillard, Pascal" sort="Brouillard, Pascal" uniqKey="Brouillard P" first="Pascal" last="Brouillard">Pascal Brouillard</name></noRegion><name sortKey="Nguyen, Ha Long" sort="Nguyen, Ha Long" uniqKey="Nguyen H" first="Ha-Long" last="Nguyen">Ha-Long Nguyen</name><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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