LymphedemaV1, Main, Exploration, bibRecord, 001C21

LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.

Identifieur interne : 001C21 ( Main/Exploration ); précédent : 001C20; suivant : 001C22

LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.

Auteurs : G. Morcaldi ; T. Bellini ; C. Rossi ; M. Maghnie ; F. Boccardo ; E. Bonioli ; C. Bellini

Source :

Lymphology [ 0024-7766 ] ; 2015.

RBID : pubmed:26939159

Descripteurs français

KwdFr :
- Cardiopathies congénitales (anatomopathologie), Cardiopathies congénitales (génétique), Dysplasie ectodermique (anatomopathologie), Dysplasie ectodermique (génétique), Enfant, Faciès, Femelle, Humains, Mutation (génétique), Protéines proto-oncogènes p21(ras) (génétique), Retard de croissance staturo-pondérale (anatomopathologie), Retard de croissance staturo-pondérale (génétique).
MESH :
- anatomopathologie : Cardiopathies congénitales, Dysplasie ectodermique, Retard de croissance staturo-pondérale.
- génétique : Cardiopathies congénitales, Dysplasie ectodermique, Mutation, Protéines proto-oncogènes p21(ras), Retard de croissance staturo-pondérale.
- Enfant, Faciès, Femelle, Humains.

English descriptors

KwdEn :
- Child, Ectodermal Dysplasia (genetics), Ectodermal Dysplasia (pathology), Facies, Failure to Thrive (genetics), Failure to Thrive (pathology), Female, Heart Defects, Congenital (genetics), Heart Defects, Congenital (pathology), Humans, Mutation (genetics), Proto-Oncogene Proteins p21(ras) (genetics).
MESH :
- chemical , genetics : Proto-Oncogene Proteins p21(ras).
- genetics : Ectodermal Dysplasia, Failure to Thrive, Heart Defects, Congenital, Mutation.
- pathology : Ectodermal Dysplasia, Failure to Thrive, Heart Defects, Congenital.
- Child, Facies, Female, Humans.

Abstract

Cardio-facio-cutaneous (CFC) syndrome is a very rare and sporadic disease whose characteristics include dysmorphic facial appearance, ectodermal abnormalities, cardiac abnormalities, growth retardation and neurodevelopmental delay. This syndrome is classified as one of the RAS syndromes which are caused by altered signal transduction of the RAS/MAPK (mitogen activated protein kinase) pathway due to the mutation of genes including BRAF, MEK1/2, HRAS and KRAS. Other RAS syndromes, such as Costello syndrome and Noonan syndrome, share clinical features with CFC. Moreover, patients with the same clinical phenotype may have different molecular diagnoses. Clinical diagnosis is the starting pointfor correct classification. We describe the clinical data of one case of CFC syndrome, genetically determined by KRAS mutation, that involved chylothorax, lymphedema, sinus pericranii, craniosynostosis, and seizures. This is the second case report of the literature.

PubMed: 26939159

Affiliations:

Le document en format XML

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<term>Dysplasie ectodermique (génétique)</term>
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<term>Mutation (génétique)</term>
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<front><div type="abstract" xml:lang="en">Cardio-facio-cutaneous (CFC) syndrome is a very rare and sporadic disease whose characteristics include dysmorphic facial appearance, ectodermal abnormalities, cardiac abnormalities, growth retardation and neurodevelopmental delay. This syndrome is classified as one of the RAS syndromes which are caused by altered signal transduction of the RAS/MAPK (mitogen activated protein kinase) pathway due to the mutation of genes including BRAF, MEK1/2, HRAS and KRAS. Other RAS syndromes, such as Costello syndrome and Noonan syndrome, share clinical features with CFC. Moreover, patients with the same clinical phenotype may have different molecular diagnoses. Clinical diagnosis is the starting pointfor correct classification. We describe the clinical data of one case of CFC syndrome, genetically determined by KRAS mutation, that involved chylothorax, lymphedema, sinus pericranii, craniosynostosis, and seizures. This is the second case report of the literature.</div>
</front>
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<name sortKey="Boccardo, F" sort="Boccardo, F" uniqKey="Boccardo F" first="F" last="Boccardo">F. Boccardo</name>
<name sortKey="Bonioli, E" sort="Bonioli, E" uniqKey="Bonioli E" first="E" last="Bonioli">E. Bonioli</name>
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Serveur d'exploration sur le lymphœdème

LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.

LYMPHODYSPLASIA AND KRAS MUTATION: A CASE REPORT AND LITERATURE REVIEW.

Source :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

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