Document Detail


Neurofibromatosis type 1 clinical features and management.
MedLine Citation:
PMID:  20333883     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Neurofibromatosis type 1 (NF1) or von Recklinghausen's disease is one of the most common genetic disorder. It is characterized by a wide variability and unpredictability of clinical manifestations involving multiple organ systems. Several complications affecting life expectancy can occur in affected patients. We reviewed genetic mechanisms, clinical aspects of the syndrome and multidisciplinary management required for NF1 patients.
Authors:
Maria Scalzone; Paola Coccia; Antonio Ruggiero; Riccardo Riccardi
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  La Pediatria medica e chirurgica : Medical and surgical pediatrics     Volume:  31     ISSN:  0391-5387     ISO Abbreviation:  Pediatr Med Chir     Publication Date:    2009 Nov-Dec
Date Detail:
Created Date:  2010-03-25     Completed Date:  2010-04-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8100625     Medline TA:  Pediatr Med Chir     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  246-51     Citation Subset:  IM    
Affiliation:
Division of Pediatric Oncology, Catholic University of Rome, Rome, Italy.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Age Factors
Child
Child, Preschool
Genotype
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Neurofibromatosis 1* / complications,  diagnosis,  epidemiology,  etiology,  genetics,  therapy
Optic Nerve Glioma / diagnosis
Patient Care Team
Phenotype

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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