Potocki―Shaffer Syndrome: Comprehensive Clinical Assessment, Review of the Literature, and Proposals for Medical Management
- Author
- SWARR, Daniel T1 ; BLOOM, Douglas2 ; LEWIS, Richard Alan3 4 ; ELENBERG, Ewa5 ; FRIEDMAN, Ellen M6 ; GLOTZBACH, Caron7 ; WISSMAN, Scott D5 8 ; SHAFFER, Lisa G7 ; POTOCKI, Lorraine4
[1] Department of Pediatrics, Baylor College of Medicine, Houston, Texas, United States
[2] Psychology Section, Baylor College of Medicine, Houston, Texas, United States
[3] Department of Ophthalmology, Baylor College of Medicine, Houston, Texas, United States
[4] Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, United States
[5] Department of Nephrology, Baylor College of Medicine, Texas Children's Hospital, Houston, Texas, United States
[6] Department of Otolarungologu—Head and Neck Surgery, Baylor College of Medicine, Houston, Texas, United States
[7] Signature Genomic Laboratories, Spokane, Washington, United States
[8] Department of Pediatrics, George Washington University, Washington, District of Columbia, United States - Source
American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 565-572, 8 p ; ref : 1/2 p
- Publisher
- Wiley-Liss, Chichester
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- 11p11.2p12 deletion syndrome autism biparietal foramina monosomy 11p multiple congenital anomalies/mental retardation syndrome multiple exostoses
- Keyword (fr)
- Arriération mentale Article synthèse Autisme Chromosome C11 Conduite à tenir Délétion Maladie des exostoses multiples Malformation Monosomie Multiple Revue bibliographique Trouble neurologique Anomalie congénitale Potocki Shaffer syndrome Aberration chromosomique Aneuploïdie Déficience intellectuelle Maladie héréditaire Ostéochondrodysplasie Pathologie du système nerveux Pathologie du système ostéoarticulaire Trouble du développement
- Keyword (en)
- Mental retardation Review Autism Chromosome C11 Clinical management Deletion Multiple cartilaginous exostosis Malformation Monosomy Multiple Bibliographic review Neurological disorder Congenital anomaly Potocki Shaffer syndrome Chromosomal aberration Aneuploidy Intellectual deficiency Genetic disease Osteochondrodysplasia Nervous system diseases Diseases of the osteoarticular system Developmental disorder
- Keyword (es)
- Retraso mental Artículo síntesis Autismo Cromosoma C11 Actitud médica Deleción Exóstosis múltiple cartilaginosa Malformación Monosomía Múltiple Revista bibliográfica Trastorno neurológico Anomalía congénita Aberración cromosómica Aneuploidía Deficiencia intelectual Enfermedad hereditaria Osteocondrodisplasia Sistema nervioso patología Sistema osteoarticular patología Trastorno desarrollo
- 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
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B18 Psychopathology. Psychiatry / 002B18C Adult and adolescent clinical studies / 002B18C12 Intellectual deficiency
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B18 Psychopathology. Psychiatry / 002B18D Child clinical studies / 002B18D04 Developmental disorders / 002B18D04B Infantile autism
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23B Chromosome aberrations
- Francis
- 770 Psychology. Psychoanalysis. Psychiatry / 770-D Psychopathology. Psychiatry / 770-D03 Adult and adolescent clinical studies / 770-D03L Intellectual deficiency
- Francis
- 770 Psychology. Psychoanalysis. Psychiatry / 770-D Psychopathology. Psychiatry / 770-D04 Child clinical studies / 770-D04D Developmental disorders / 770-D04D02 Infantile autism
- Discipline
- Medical genetics Osteoarticular pathology Psychopathology. Psychiatry. Clinical psychology
- Origin
- Inist-CNRS
- Database
- FRANCIS ; PASCAL
- INIST identifier
- 22514128
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.a.33245 
https://dx.doi.org/10.1002/ajmg.a.33245
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