CHARGE syndrome : Report of 47 cases and review
- Author
- TELLIER, A. L1 ; CORMIER-DAIRE, V1 ; JAN, D5 ; DOLLFUS, H6 ; BAUMANN, C7 ; LABRUNE, P8 ; LACOMBE, D9 ; PHILIP, N3 ; LEMERRER, M1 ; BRIARD, M. L1 ; MUNNICH, A1 ; LYONNET, S1 ; ABADIE, V2 ; AMIEL, J1 ; SIGAUDY, S3 ; BONNET, D2 ; DE LONLAY-DEBENEY, P1 ; MORRISSEAU-DURAND, M. P4 ; HUBERT, P2 ; MICHEL, J. L5
[1] Département de Génétique et Unité de Recherches sur les Handicaps Génétiques de l'Enfant, INSERM U-393, Hôpital Necker-Enfants-Malades, Paris, France
[2] Fédération de Pédiatrie Médicale, Hôpital Necker-Enfants-Malades, Paris, France
[3] Centre de Génétique Médicale, Hôpital d'Enfants de la Timone, Marseille, France
[4] Service d'Ophtalmologie, Hôpital Necker-Enfants-Malades, Paris, France
[5] Service d'ORL, Hôpital Necker-Enfants-Malades, Paris, France
[6] Clinique Chirurgicale Infantile, Hôpital Necker-Enfants-Malades, Paris, France
[7] Unité de Génétique, Hôpital Robert Debré, Paris, France
[8] Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France
[9] Service de Pédiatrie et de Génétique, Hôpital d'Enfants Pellegrin, Bordeaux, France - Source
American journal of medical genetics. = Neuropsychiatric genetics. 1998, Vol 76, Num 5, pp 402-409 ; ref : 54 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Appareil génital pathologie Arriération mentale Atrésie Cardiopathie Choane Colobome Congénital Diagnostic Enfant Etude familiale Facteur prédictif Nouveau né Oreille pathologie Phénotype Pronostic Retard staturopondéral Surdité Survie CHARGE syndrome Appareil circulatoire pathologie Déficience intellectuelle Homme Maladie congénitale Malformation Nez pathologie ORL pathologie Oeil pathologie Syndrome complexe Trouble audition Trouble développement
- Keyword (en)
- Genital diseases Mental retardation Atresia Heart disease Choana Coloboma Congenital Diagnosis Child Family study Predictive factor Newborn Ear disease Phenotype Prognosis Growth retardation Hearing loss Survival CHARGE syndrome Cardiovascular disease Intellectual deficiency Human Congenital disease Malformation Nose disease ENT disease Eye disease Complex syndrome Auditory disorder Developmental disorder
- Keyword (es)
- Aparato genital patología Retraso mental Atresia Cardiopatía Coana Coloboma Congénito Diagnóstico Niño Estudio familiar Factor predictivo Recién nacido Oido patología Fenotipo Pronóstico Retraso pondoestatural Sordera Sobrevivencia Aparato circulatorio patología Deficiencia intelectual Hombre Enfermedad congénita Malformación Nariz patología ORL patología Ojo patología Síndrome complejo Trastorno auditivo Trastorno desarrollo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23E Complex syndromes
- Discipline
- Medical genetics
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2207451
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O 
https://dx.doi.org/10.1002/(SICI)1096-8628(19980413)76:5<402::AID-AJMG7>3.0.CO;2-O
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