Polydactyly, campomelia, ambiguous, genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents : a new multiple malformation syndrome, or a severe form of oral-facial digital syndrome type IV ?
- Auteur
- ADES, L. C1 ; CLAPTON, W. K; MORPHETT, A; MORRIS, L. L1 ; HAAN, E. A
[1] Cent. medical genetics, dep. medical genetics, North Adelaide, Australia - Source
American journal of medical genetics. = Neuropsychiatric genetics. 1994, Vol 49, Num 2, pp 211-217 ; ref : 21 ref
- Editeur
- Wiley-Liss, New York, NY
- Pays de publication
- United States
- Type de document
- Article
- Langue
- English
- Mot clé (fr)
- Caractère autosomique Caractère récessif Consanguinité Doigt Encéphale Foetus Homme Maladie héréditaire Malformation Membre supérieur Nanisme campomélique Polydactylie Rein multikystique Syndrome complexe Anomalie différentiation sexuelle Nouveau syndrome Orofaciodigital syndrome Appareil génital pathologie Appareil urinaire pathologie Dysostose Kyste Main pathologie Maladie congénitale Ostéochondrodysplasie Rein pathologie Système nerveux central pathologie Système nerveux pathologie Système ostéoarticulaire pathologie Tumeur bénigne
- Mot clé (en)
- Autosomal character Recessive character Consanguinity Finger Brain (vertebrata) Fetus Human Genetic disease Malformation Upper limb Campomelic dysplasia Polydactyly Multicystic kidney Complex syndrome New syndrome Orofaciodigital syndrome Genital diseases Urinary system disease Dysostosis Cyst Disease of the hand Congenital disease Osteochondrodysplasia Renal disease Central nervous system disease Nervous system diseases Diseases of the osteoarticular system Benign neoplasm
- Mot clé (es)
- Carácter autosómico Carácter recesivo Consanguinidad Dedo Encéfalo Feto Hombre Enfermedad hereditaria Malformación Miembro superior Enanismo campomélico Polidactilia Riñón multiquístico Síndrome complejo Aparato genital patología Aparato urinario patología Disostosis Quiste Mano patología Enfermedad congénita Osteocondrodisplasia Riñón patología Sistema nervosio central patología Sistema nervioso patología Sistema osteoarticular patología Tumor benigno
- Classification
- Pascal
- 002 Sciences biologiques et medicales / 002B Sciences medicales / 002B23 Genetique medicale / 002B23E Syndromes complexes
- Discipline
- Medical genetics
- Provenance
- Inist-CNRS
- Base de données
- PASCAL
- Identifiant INIST
- 3907594
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/ajmg.1320490211 
https://dx.doi.org/10.1002/ajmg.1320490211
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