Giant-cell chondrodysplasia in a male infant with clinical and radiological findings resembling the Piepkorn type of lethal osteochondrodysplasia
- Author
- URIOSTE, M1 2 ; RODRIGUEZ, J. I3 ; BOFARULL, J. M4 ; TORAN, N5 ; FERRER, C6 ; VILLA, A1
[1] Estudio Colaborativo Espanol de Malformaciones Congénitas (ECEMC), Madrid, Spain
[2] Hospital Universitario San Carlos, Facultad de Medicine, Universidad Complutense, Madrid, Spain
[3] Departamento de Anatomia Patológica, Hospital La Paz, Madrid, Spain
[4] Departamento de Pediatria, Hospital Universitario de San Joan, Reus, Tarragona, Spain
[5] Departamento de Anatomia Patológica, Hospital Universitario Valle de Hebrón, Barcelona, Spain
[6] Departamento de Anatomia Patológica, Hospital Universitario de San Joan, Reus, Tarragona, Spain - Conference title
- NICHD Conference on the RSH/SLO Syndrome
- Conference name
- NICHD Conference on the RSH/SLO Syndrome (2 )
- Source
American journal of medical genetics. = Neuropsychiatric genetics. 1997, Vol 68, Num 3, pp 342-346 ; ref : 19 ref
- Publisher
- Wiley-Liss, New York, NY
- Publication country
- United States
- Document type
- Conference Paper
- Language
- English
- Keyword (fr)
- Cellule géante Chondrodysplasie Etude cas Foetus Forme clinique Histopathologie Homme Membre Os Phénotype Radiodiagnostic Côte courte polydactylie syndrome Dysplasie Boomerang Maladie congénitale Malformation Système ostéoarticulaire pathologie
- Keyword (en)
- Giant cell Chondrodysplasia Case study Fetus Clinical form Histopathology Human Limb Bone Phenotype Radiodiagnosis Boomerang dysplasia Congenital disease Malformation Diseases of the osteoarticular system
- Keyword (es)
- Célula gigante Condrodisplasia Estudio caso Feto Forma clínica Histopatología Hombre Miembro Hueso Fenotipo Radiodiagnóstico Enfermedad congénita Malformación Sistema osteoarticular patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Discipline
- Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 2580662
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(19970131)68:3<342::AID-AJMG17>3.0.CO;2-T 
https://dx.doi.org/10.1002/(SICI)1096-8628(19970131)68:3<342::AID-AJMG17>3.0.CO;2-T
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