Accès ouvert
2025
article
OpenAlex
Jenny Paola Garzón-Hernández, Eva Dombi, Jonathan D. Samet, María Paula Silva Sánchez et autres
NF1-related bone dysplasia in children and young adults with neurofibromatosis type 1 (NF1) involving the sacroiliac joint has been rarely described. We report four participants who underwent whole-body magnetic resonance imaging (WB-MRI) as part of a longitudinal imaging and plexiform neurofibroma (PN) …
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Accès ouvert
2024
article
OpenAlex
Jenny Paola Garzón-Hernández, Andrea Patete, Lindsey Aschbacher‐Smith, Dima Qu’d et autres
Neurofibromatosis type 1 (NF-1) microdeletion syndrome accounts for 5 to 11% of individuals with NF-1. The aim of our study was to characterize a large cohort of individuals with NF-1 microdeletion syndrome and expand its natural history. We conducted a retrospective chart …
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2023
article
OpenAlex
Jenny P. Garzon, Andrea Patete, Carolyn Serbinski, Madison Hankins et autres
Objective: To describe the neurocognitive manifestations in patients with NF1 microdeletion syndromes. Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant cancer predisposition syndrome that affects 1 in 2500–3000 people. About 5–11% of NF1 patients have NF1 microdeletion syndrome, historically associated with …
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