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Healthcarerecommendations forJoubert syndrome Ruxandra Bachmann‐GagescuJennifer C. DempseySara Bulgheroni2019 год

Healthcare recommendations for Joubert syndrome
review

Полный текстСтраница публикацииПубликация в OpenAlex
Аннотация: Joubert syndrome (JS) is a recessive neurodevelopmental disorder defined by a characteristic cerebellar and brainstem malformation recognizable on axial brain magnetic resonance imaging as the "Molar Tooth Sign". Although defined by the neurological features, JS is associated with clinical features affecting many other organ systems, particularly progressive involvement of the retina, kidney, and liver. JS is a rare condition; therefore, many affected individuals may not have easy access to subspecialty providers familiar with JS (e.g., geneticists, neurologists, developmental pediatricians, ophthalmologists, nephrologists, hepatologists, psychiatrists, therapists, and educators). Expert recommendations can enable practitioners of all types to provide quality care to individuals with JS and know when to refer for subspecialty care. This need will only increase as precision treatments targeting specific genetic causes of JS emerge. The goal of these recommendations is to provide a resource for general practitioners, subspecialists, and families to maximize the health of individuals with JS throughout the lifespan.
Год издания: 2019
Авторы: Ruxandra Bachmann‐Gagescu, Jennifer C. Dempsey, Sara Bulgheroni, Maida L. Chen, Stefano D’Arrigo, Ian Glass, Theo Heller, Elise Héon, Friedhelm Hildebrandt, Nirmal Joshi, Dana Knutzen, Hester Y. Kroes, Stephen H. Mack, Sara Nuovo, Melissa A. Parisi, Joseph Snow, Angela C. Summers, Jordan M. Symons, Wadih M. Zein, Eugen Boltshauser, John A. Sayer, Meral Gunay‐Aygun, Enza Maria Valente, Dan Doherty
Издательство: Wiley
Источник: American Journal of Medical Genetics Part A
Ключевые слова: Genetic and Kidney Cyst Diseases, Fetal and Pediatric Neurological Disorders, Congenital Anomalies and Fetal Surgery
Другие ссылки: American Journal of Medical Genetics Part A (HTML)
IRIS Research product catalog (Sapienza University of Rome) (PDF)
IRIS Research product catalog (Sapienza University of Rome) (HTML)
Zurich Open Repository and Archive (University of Zurich) (HTML)
PubMed Central (HTML)
PubMed (HTML)