LymphedemaV1, Main, Exploration, bibRecord, 00D715

The Noonan‐CFC controversy

Identifieur interne : 00D715 ( Main/Exploration ); précédent : 00D714; suivant : 00D716

The Noonan‐CFC controversy

Auteurs : Giovanni Neri [Italie] ; Marcella Zollino [Italie] ; James F. Reynolds [Italie, États-Unis]

Source :

American Journal of Medical Genetics [ 0148-7299 ] ; 1991-06-01.

RBID : ISTEX:93D41A4B416443D37875EEEE1800C491C1208A14

Descripteurs français

KwdFr :
- Cardiopathies congénitales (génétique), Face (malformations), Humains, Malformations cutanées, Malformations multiples (diagnostic), Malformations multiples (génétique), Syndrome, Syndrome de Noonan (diagnostic), Syndrome de Noonan (génétique).
MESH :
- diagnostic : Malformations multiples, Syndrome de Noonan.
- génétique : Cardiopathies congénitales, Malformations multiples, Syndrome de Noonan.
- malformations : Face.
- Humains, Malformations cutanées, Syndrome.

English descriptors

KwdEn :
- Abnormalities, Multiple (diagnosis), Abnormalities, Multiple (genetics), Face (abnormalities), Heart Defects, Congenital (genetics), Humans, Noonan Syndrome (diagnosis), Noonan Syndrome (genetics), Skin Abnormalities, Syndrome.
MESH :
- abnormalities : Face.
- diagnosis : Abnormalities, Multiple, Noonan Syndrome.
- genetics : Abnormalities, Multiple, Heart Defects, Congenital, Noonan Syndrome.
- Humans, Skin Abnormalities, Syndrome.

Abstract

The Noonan syndrome and the cardio‐facio‐cutaneous (CFC) syndrome have been described as phenotypically and genetically distinct entities. However, the resemblance between them led some authors to question the validity of this separation. We review available clinical evidence to support the opposite view, namely, that the Noonan and CFC syndromes are indeed distinct and separate conditions, both falling within the broad and causally heterogeneous spectrum of the Noonan/congenital lymphedema phenotype.

Url:

https://api.istex.fr/document/93D41A4B416443D37875EEEE1800C491C1208A14/fulltext/pdf

DOI: 10.1002/ajmg.1320390323

Affiliations:

Le document en format XML

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<front><div type="abstract" xml:lang="en">The Noonan syndrome and the cardio‐facio‐cutaneous (CFC) syndrome have been described as phenotypically and genetically distinct entities. However, the resemblance between them led some authors to question the validity of this separation. We review available clinical evidence to support the opposite view, namely, that the Noonan and CFC syndromes are indeed distinct and separate conditions, both falling within the broad and causally heterogeneous spectrum of the Noonan/congenital lymphedema phenotype.</div>
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Serveur d'exploration sur le lymphœdème

The Noonan‐CFC controversy

The Noonan‐CFC controversy

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

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