Rare variants modulating phenotype in NF1 carriers. [PDF]
Pasquinelli E +14 more
europepmc +1 more source
Occipital Bone Defect With Meningoencephalocele and Plexiform Neurofibroma in Neurofibromatosis-1. [PDF]
Pandey A +4 more
europepmc +1 more source
Nevus Unius Lateris and Nevus Anemicus in a Patient With Neurofibromatosis Type 1: Noninvasive Imaging With Line-Field Confocal Optical Coherence Tomography and High-Resolution Video Dermoscopy. [PDF]
Falcinelli F +3 more
europepmc +1 more source
Dermoscopy-Guided High-Frequency Ultrasound Imaging of Subcentimeter Cutaneous and Subcutaneous Neurofibromas in Patients with Neurofibromatosis Type 1. [PDF]
Kerekes K +4 more
europepmc +1 more source
McCune-Albright syndrome with multiple hyperfunctional endocrinopathies: diagnosis, treatment, and long-term follow-up: a case report. [PDF]
Zainab MJ +4 more
europepmc +1 more source
Managing acute myeloid leukemia in the context of sickle cell anemia and suspected Fanconi anemia in Tanzania: a case report. [PDF]
Kilipamwambu A +9 more
europepmc +1 more source
Post-Axial Polydactyly and Postnatal Pulmonary Stenosis Observed With a SPRED1 Pathogenic Variant. [PDF]
Gibbs A +3 more
europepmc +1 more source

