Recurrent cerebral infarctions and del(10)(p14p15.1) de novo in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome
- Author
- FUJIMOTO, S1 2 ; YOKOCHI, K3 ; MORIKAWA, H4 ; NAKANO, M4 ; SHIBATA, H2 ; TOGARI, H1 ; WADA, Y1
[1] Department of Pediatrics, Nagoya City University Medical School, Nagoya, Japan
[2] Department of Laboratory Medicine, Nagoya City University Medical School, Nagoya, Japan
[3] Department of Pediatric Neurology, Seirei-Mikatabara General Hospital, Hamamatsu, Japan
[4] Department of Pediatrics, Gifu Prefectural Tajimi Hospital, Tajimi, Japan - Source
American journal of medical genetics. = Neuropsychiatric genetics. 1999, Vol 86, Num 5, pp 427-429 ; ref : 9 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Chromosome C10 De novo Dysplasie Déterminisme génétique Enfant Etude cas Gène Hypoparathyroïdie Infarctus Mutation Noyau gris central Pathogénie Phénotype Rein Récurrence Surdité perception Appareil circulatoire pathologie Appareil urinaire pathologie Cérébrovasculaire pathologie Encéphale pathologie Endocrinopathie Homme Maladie congénitale Maladie héréditaire Malformation ORL pathologie Parathyroïde pathologie Rein pathologie Syndrome complexe Système nerveux central pathologie Système nerveux pathologie Trouble audition Vaisseau sanguin pathologie
- Keyword (en)
- Chromosome C10 De novo Dysplasia Genetic determinism Child Case study Gene Hypoparathyroidism Infarct Mutation Basal ganglion Pathogenesis Phenotype Kidney Recurrence Perception hearing loss Cardiovascular disease Urinary system disease Cerebrovascular disease Cerebral disorder Endocrinopathy Human Congenital disease Genetic disease Malformation ENT disease Parathyroid diseases Kidney disease Complex syndrome Central nervous system disease Nervous system diseases Auditory disorder Vascular disease
- Keyword (es)
- Cromosoma C10 De novo Displasia Determinismo genético Niño Estudio caso Gen Hipoparatiroidismo Infarto Mutación Núcleo basal Patogenia Fenotipo Riñón Recurrencia Sordera percepción Aparato circulatorio patología Aparato urinario patología Vaso sanguíneo encéfalo patología Encéfalo patología Endocrinopatía Hombre Enfermedad congénita Enfermedad hereditaria Malformación ORL patología Paratiroides patología Riñón patología Síndrome complejo Sistema nervosio central patología Sistema nervioso patología Trastorno auditivo Vaso sanguíneo patología
- 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
- 1983030
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(19991029)86:5<427::AID-AJMG6>3.0.CO;2-I 
https://dx.doi.org/10.1002/(SICI)1096-8628(19991029)86:5<427::AID-AJMG6>3.0.CO;2-I
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