Natural history of aging in cornelia de lange syndrome
- Author
- KLINE, Antonie D1 ; GRADOS, Marco2 ; PICHARD, Carmen6 ; TUCHMAN, David2 ; SPONSELLER, Paul2 ; LEVY, Howard P2 ; BLAGOWIDOW, Natalie3 ; SCHOEDEL, Christianne4 ; RAMPOLLA, Joni; CLEMENS, Douglas K; KRANTZ, Ian5 ; KIMBALL, Amy1
[1] Harvey Institute for Human Genetics at Greater Baltimore Medical Center, United States
[2] Johns Hopkins University School of Medicine, United States
[3] Department of Obstetrics at Greater Baltimore Medical Center, United States
[4] Neonatal and Pediatric Ophthalmological Services at York Hospital, United States
[5] University of Pennsylvania School of Medicine, United States
[6] Johns Hopkins Hospital, United States - Issue title
- Adult dysmorphology
- Author (monograph)
- SCHRANDER-STUMPEL, Constance T. R. M (Editor)1 2 ; WILLIAMS, Marc S (Editor)3
[1] Department of Clinical Genetics, Academic Hospital Maastricht and Research Institute, Netherlands
[2] Research Institute Growth & Development (GROW), Maastricht University, Masstricht, Netherlands
[3] Intermountain Healthcare Clinical Genetics Institute, Salt Lake City, Utah, United States - Source
American journal of medical genetics. Part C, Seminars in medical genetics. 2007, Vol 145, Num 3, pp 248-260, 13 p ; ref : 1 p
- Publisher
- Wiley-Liss, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- Barrett esophagus Cornelia de Lange syndrome aging mutation phenotype
- Keyword (fr)
- De Lange syndrome Mutation Oesophage Barrett Pathogénie Phénotype Vieillissement Appareil digestif pathologie Encéphale pathologie Lésion précancéreuse Malformation Oesophage pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- De Lange syndrome Mutation Barrett esophagus Pathogenesis Phenotype Ageing Digestive diseases Cerebral disorder Premalignant lesion Malformation Esophageal disease Central nervous system disease Nervous system diseases
- Keyword (es)
- De Lange síndrome Mutación Esófago Barrett Patogenia Fenotipo Envejecimiento Aparato digestivo patología Encéfalo patología Lesión precancerosa Malformación Esófago patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B13 Gastroenterology. Liver. Pancreas. Abdomen / 002B13A Esophagus / 002B13A03 Other diseases. Semiology
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17D Malformations of the nervous system
- Discipline
- Gastroenterology. Liver. Pancreas. Abdomen Medical genetics Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 18987006
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.c.30137 
https://dx.doi.org/10.1002/ajmg.c.30137
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