LymphedemaV1, PubMed, Curation, bibRecord, 002315

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 : 002315 ( PubMed/Curation ); précédent : 002314; suivant : 002316

CCBE1 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 ; P S Mortimer ; I. Jeffrey ; S. Jeffery ; Sahar Mansour

Source :

Clinical genetics [ 1399-0004 ] ; 2012.

RBID : pubmed:22239599

Descripteurs français

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

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Le document en format XML

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<author><name sortKey="Ostergaard, P" sort="Ostergaard, P" uniqKey="Ostergaard P" first="P" last="Ostergaard">P. Ostergaard</name>
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<author><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name>
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<author><name sortKey="Murday, V" sort="Murday, V" uniqKey="Murday V" first="V" last="Murday">V. Murday</name>
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<term>Diagnosis, Differential</term>
<term>Female</term>
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<term>Genetic Predisposition to Disease</term>
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<term>Genital Diseases, Male (genetics)</term>
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<term>Lymphatic Abnormalities</term>
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<term>Maladies de l'appareil génital mâle</term>
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<term>Diagnosis, Differential</term>
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CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis.

CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis.

Source :

Descripteurs français

English descriptors

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki