Superimposed mosaicism in the form of extremely extended segmental plexiform neurofibroma caused by a novel pathogenic variant in the Nf1 gene
Plexiform neurofibromas occurring in approximately 20–50% of all neurofibromatosis type-1
(NF1) cases are histologically benign tumors, but they can be fatal due to compression of …
(NF1) cases are histologically benign tumors, but they can be fatal due to compression of …
Paget's Disease of the Bone and Lynch Syndrome: An Exceptional Finding
Our objective is to present an exceptional case of a patient diagnosed with Paget's disease
of the bone (PDB) while being confirmed with Lynch syndrome (LS). A 44-year-old woman …
of the bone (PDB) while being confirmed with Lynch syndrome (LS). A 44-year-old woman …
[HTML][HTML] Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study
K Veres, B Nagy, Z Ember, J Bene, K Hadzsiev… - Biomedicines, 2025 - mdpi.com
Background: Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused
by pathogenic variants in the NF1 gene. Although genotype–phenotype correlation studies …
by pathogenic variants in the NF1 gene. Although genotype–phenotype correlation studies …
Neurofibromatosis Tipo I: caso clínico
CML Bermeo, ICM Cano, JPÁ Vinueza - AlfaPublicaciones, 2024 - alfapublicaciones.com
Introducción: la neurofibromatosis comprende tres trastornos hereditarios dominantes,
siendo el tipo I la más común, relativamente frecuente, con una prevalencia de 1 en 3500 …
siendo el tipo I la más común, relativamente frecuente, con una prevalencia de 1 en 3500 …
Neurofibromatosis Tipo I: caso clínico
CM León Bermeo - 2024 - dspace.ucacue.edu.ec
Introducción: la neurofibromatosis comprende tres trastornos hereditarios dominantes,
siendo el tipo I la más común, relativamente frecuente, con una prevalencia de 1 en 3500 …
siendo el tipo I la más común, relativamente frecuente, con una prevalencia de 1 en 3500 …
Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family
J Ma, Y Zhang, X Ding, Z Liang, C Yang, Z Deng… - Calcified Tissue …, 2023 - Springer
Rare genetic skeletal disorders (GSDs) remain the major problem in orthopedics and result
in significant morbidity in patients, but the causes are highly diverse. Precise molecular …
in significant morbidity in patients, but the causes are highly diverse. Precise molecular …
[引用][C] Paget's Disease of the Bone and Lynch Syndrome: An Exceptional Finding. Diagnostics 2023, 13, 2101
Our objective is to present an exceptional case of a patient diagnosed with Paget's disease
of the bone (PDB) while being confirmed with Lynch syndrome (LS). A 44-year-old woman …
of the bone (PDB) while being confirmed with Lynch syndrome (LS). A 44-year-old woman …