CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis.
Identifieur interne : 004971 ( Ncbi/Checkpoint ); précédent : 004970; suivant : 004972CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis.
Auteurs : F C Connell ; K. Kalidas ; P. Ostergaard ; G. Brice ; V. Murday ; Peter Mortimer (dermatologue) [Royaume-Uni] ; I. Jeffrey ; S. Jeffery ; Sahar MansourSource :
- Clinical genetics [ 1399-0004 ] ; 2012.
Descripteurs français
- KwdFr :
- Anasarque foeto-placentaire (diagnostic), Anasarque foeto-placentaire (génétique), Diagnostic différentiel, Enfant, Enfant d'âge préscolaire, Femelle, Foetus, Humains, Lymphangiectasie intestinale (diagnostic), Lymphangiectasie intestinale (génétique), Lymphoedème (diagnostic), Lymphoedème (génétique), Maladies de l'appareil génital mâle (diagnostic), Maladies de l'appareil génital mâle (génétique), Malformations crâniofaciales (diagnostic), Malformations crâniofaciales (génétique), Malformations lymphatiques (diagnostic), Malformations lymphatiques (génétique), Mutation, Mâle, Nourrisson, Nouveau-né, Protéines de liaison au calcium (génétique), Protéines suppresseurs de tumeurs (génétique), Prédisposition génétique à une maladie.
- MESH :
- diagnostic : Anasarque foeto-placentaire, Lymphangiectasie intestinale, Lymphoedème, Maladies de l'appareil génital mâle, Malformations crâniofaciales, Malformations lymphatiques.
- génétique : Anasarque foeto-placentaire, Lymphangiectasie intestinale, Lymphoedème, Maladies de l'appareil génital mâle, Malformations crâniofaciales, Malformations lymphatiques, Protéines de liaison au calcium, Protéines suppresseurs de tumeurs.
- Diagnostic différentiel, Enfant, Enfant d'âge préscolaire, Femelle, Foetus, Humains, Mutation, Mâle, Nourrisson, Nouveau-né, Prédisposition génétique à une maladie.
English descriptors
- KwdEn :
- Calcium-Binding Proteins (genetics), Child, Child, Preschool, Craniofacial Abnormalities (diagnosis), Craniofacial Abnormalities (genetics), Diagnosis, Differential, Female, Fetus, Genetic Predisposition to Disease, Genital Diseases, Male (diagnosis), Genital Diseases, Male (genetics), Humans, Hydrops Fetalis (diagnosis), Hydrops Fetalis (genetics), Infant, Infant, Newborn, Lymphangiectasis, Intestinal (diagnosis), Lymphangiectasis, Intestinal (genetics), Lymphatic Abnormalities (diagnosis), Lymphatic Abnormalities (genetics), Lymphedema (diagnosis), Lymphedema (genetics), Male, Mutation, Tumor Suppressor Proteins (genetics).
- MESH :
- chemical , genetics : Calcium-Binding Proteins, Tumor Suppressor Proteins.
- diagnosis : Craniofacial Abnormalities, Genital Diseases, Male, Hydrops Fetalis, Lymphangiectasis, Intestinal, Lymphatic Abnormalities, Lymphedema.
- genetics : Craniofacial Abnormalities, Genital Diseases, Male, Hydrops Fetalis, Lymphangiectasis, Intestinal, Lymphatic Abnormalities, Lymphedema.
- Child, Child, Preschool, Diagnosis, Differential, Female, Fetus, Genetic Predisposition to Disease, Humans, Infant, Infant, Newborn, Male, Mutation.
DOI: 10.1111/j.1399-0004.2011.01731.x
PubMed: 22239599
Affiliations:
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pubmed:22239599Le document en format XML
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Brice</name><name sortKey="Connell, F C" sort="Connell, F C" uniqKey="Connell F" first="F C" last="Connell">F C Connell</name><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name><name sortKey="Jeffrey, I" sort="Jeffrey, I" uniqKey="Jeffrey I" first="I" last="Jeffrey">I. Jeffrey</name><name sortKey="Kalidas, K" sort="Kalidas, K" uniqKey="Kalidas K" first="K" last="Kalidas">K. Kalidas</name><name sortKey="Mansour, Sahar" sort="Mansour, Sahar" uniqKey="Mansour S" first="Sahar" last="Mansour">Sahar Mansour</name><name sortKey="Murday, V" sort="Murday, V" uniqKey="Murday V" first="V" last="Murday">V. Murday</name><name sortKey="Ostergaard, P" sort="Ostergaard, P" uniqKey="Ostergaard P" first="P" last="Ostergaard">P. Ostergaard</name></noCountry><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Mortimer, P S" sort="Mortimer, P S" uniqKey="Mortimer P" first="P S" last="Mortimer">Peter Mortimer (dermatologue)</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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