Disease: Cafe au lait spots- multiple
- A case of intramandibular neurofibroma resembling a radicular cyst in a neurofibromatosis type 1 patient
- A Case of Multiple Perineuriomas in the Colon With Underlying Neurofibromatosis Type I
- A Case of Neurofibromatosis Type 1 Diagnosed after Idiopathic Rupture of Superficial Temporal Artery Pseudoaneurysm Requiring Endovascular Treatment
- A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome
- A non-classic form of McCune Albright syndrome with different presentations and review of the literatures
- A novel mutation in NF1 gene of patient with Neurofibromatosis type 1: A case report and functional study
- A novel mutation L1425P in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE). Mutation in brief no. 230. Online
- A novel NF1 mutation in a pediatric patient with renal artery aneurysm
- A Shepherd's Crook Deformity of Proximal Femur Treated by Valgus Osteotomy and Bone Grafting
- An unusual case of pediatric embryonal rhabdomyosarcoma with subsequent diagnosis of neurofibromatosis type 1
- Aneurysms involving the coronary arteries in a neonate with neurofibromatosis 1
- Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient
- Bilateral adrenal incidentaloma in a patient with acute appendicitis
- Cafe Au Lait Macules
- Cancer and constitutional Mismatch Repair Deficiency syndrome due to homozygous MSH 6 mutation in children with Café au Lait Spots and review of literature
- Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare <em>NF1</em>: c.5392C>T Mutation
- Case report: Bilateral spinal neurofibromatosis
- Case report: Gene mutation analysis and skin imaging of isolated café-au-lait macules
- Cerebral developmental venous anomalies in children with mismatch repair deficiency
- Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants
- Clinical and dermoscopic polymorphisms in agminated Spitz nevi: Ugly presentation but benign behavior
- Clinical and molecular characteristics of thirty NF1 variants in Chinese patients with neurofibromatosis type 1
- Clinical Characteristics of the Halo Phenomenon in Infants with Neurofibromatosis 1: A Case Series
- Clinical features of Chilean patients with Fibrous Dysplasia/McCune-Albright Syndrome
- Clinical spectrum of neurofibromatosis type 1 among children in a tertiary care center
- Coexistence of Constitutional Mismatch Repair Deficiency syndrome and Lynch syndrome in a family of seven : MSH6 mutation and childhood colorectal cancer - a case series
- Constitutional mismatch repair deficiency in childhood colorectal cancer harboring a de novo variant in the MSH6 gene: a case report
- Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management
- Craniofacial fibrous dysplasia and aneurismal bone cyst in a patient with McCune-Albright syndrome. A case report and review of the literature
- Delayed Diagnosis of McCune-Albright Syndrome
- Dermatofibrosarcoma Protuberans Presenting in a Patient With Neurofibromatosis Type 1: Potential Implications on Treatment
- Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study
- Dermatological manifestations, management, and care in RASopathies
- Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition
- Diagnostic value of multiple café-au-lait macules for neurofibromatosis 1 in Chinese children
- Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report
- Endovascular Repair for Abdominal Aortic Aneurysm Rupture With Neurofibromatosis Type 1
- Expanding the Phenotype of Blue Sclera With New Findings of Interest in the Head and Neck
- Fatal Retroperitoneal Bleeding in Neurofibromatosis Type 1: A Clinically Occult Complication
- Gamma knife radiotherapy in a neurofibromatosis type 1 Chinese pedigrees with NF1 gene frameshift mutation: A case report
- Gene diagnosis of infantile neurofibromatosis type I: A case report
- Genetics of type 1 neurofibromatosis
- Glioblastoma in a female neurofibromatosis 1 patient without IDH1, BRAF V600E, and TERT promoter mutations: A case report
- Glioma-Induced Seizure in a Neurofibromatosis Type 1 Patient: A Case Report
- Hemophagocytic Lymphohistiocytosis Secondary to Juvenile Myelomonocytic Leukemia: A Case Report and Review of the Literature
- Hyperpigmented spots at fundus examination: a new ocular sign in Neurofibromatosis Type I
- Implications of mosaicism in variant interpretation: A case of a de novo homozygous NF1 variant
- Koebner Phenomenon: Café-au-Lait Spots Developing after a Secondary-Degree Burn in a Patient with Neurofibromatosis Type 1
- Lentiginous mosaicism and mosaic generalized neurofibromatosis type 1
- Leopard syndrome: the potential cardiac defect underlying skin phenotypes
- Lisch nodule in neurofibromatosis type 1
- Lumbar lipomeningomyelocele associated with multiple café au lait spots: a case report
- Malignant Peripheral Nerve Sheath Tumor in an Army Reservist With Neurofibromatosis Type 1
- Mandibular neurofibroma with osseous deformities in a 3-year-old child with neurofibromatosis type 1: A case report presentation and diagnosis
- McCune-Albright Syndrome in Infant with Growth Hormone Excess
- McCune-Albright syndrome onset with vaginal bleeding
- miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes
- Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review)
- Moyamoya syndrome associated with neurofibromatosis type 1 in a pediatric patient
- Multiple Café au Lait Spots in a Group of Fair-Skinned Children without Signs or Symptoms of Neurofibromatosis Type 1
- Multiple café au lait spots in familial patients with MAP2K2 mutation
- MULTIPLE CAFÉ-AU-LAIT MACULES AND INTERTRIGINOUS FRECKLING: BEYOND THE RASOPATHIES
- Multiple desmoplastic Spitz nevi with BRAF fusions in a patient with ring chromosome 7 syndrome
- Multiple subepidermal calcified nodule confined to café-au-lait spots
- Mutated SON putatively causes a cancer syndrome comprising high-risk medulloblastoma combined with café-au-lait spots
- Mutation spectrum of the NF1 gene and genotype-phenotype correlations in Turkish patients: Seventeen novel pathogenic variants
- Mutational spectrum by phenotype: panel-based NGS testing of patients with clinical suspicion of RASopathy and children with multiple café-au-lait macules
- Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1
- Neurofibromatosis 1-associated panhypopituitarism presenting as hypoglycaemic seizures and stroke-like symptoms
- Neurofibromatosis type 1 and disseminated malignant peripheral nerve sheath tumor
- Neurofibromatosis type 1 initially presented with glaucoma in the Department of Ophthalmology: a case report
- Neurofibromatosis-associated Gastrointestinal Stromal Tumor Causing Small Bowel Obstruction
- Neurofibromatosis-Noonan Syndrome With Primary Amenorrhoea: A Case Report
- New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
- Non-Odontogenic Tumors of the Jaws
- Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia
- Novel, heterozygous, de novo pathogenic variant (c.4963delA: p.Thr1656Glnfs*42) of the NF1 gene in a Chinese family with neurofibromatosis type 1
- Novel, heterozygous, pathogenic variant (c.4272delA: p.I1426Ffs*2) for the NF1 gene in a large Chinese family with neurofibromatosis type 1
- Occipital bone defect caused by neurofibromatosis type I: A case report
- Orthopaedic manifestations of neurofibromatosis type 1: A case report
- Piebaldism with café-au-lait macules resulting from a novel mutation of KIT gene in a three-generation Chinese family
- Polydactyly in neurofibromatosis type I: a potential clue to diagnosis
- Primary pilocytic astrocytoma of the cerebellopontine angle in pediatric patient with neurofibromatosis type 1: a case report
- Primary Progressive Multiple Sclerosis in a Portuguese Patient With Neurofibromatosis Type 1
- Rare Association between Two Genetic Conditions: Turner Syndrome and Neurofibromatosis Type 1
- Recurrent cardiac and skin myxomas along with acromegaly: A case report of carney complex
- Rhabdomyosarcoma as the first presentation in Neurofibromatosis Type 1: case series and review of the literature
- Seizure in Patient with Neurofibromatosis and Amygdala Low-Grade Glioma
- Skin lesions indicate cause of acute gastrointestinal bleeding: neurofibromatosis type 1
- Spontaneous Near Fatal Hemorrhage into Neurofibromatosis Type 1 Lesion in the Scalp
- Synchronous cutaneous malignant peripheral nerve sheath tumor and jejunal gastrointestinal stromal tumor and submucosal angiomyolipoma in type 1 neurofibromatosis: A case report and literature review
- The genetics and diagnosis of pediatric neurocutaneous disorders: Neurofibromatosis and tuberous sclerosis complex
- The longest reported survival of a child with McCune-Albright syndrome and a severe early presenting phenotype consisting of neonatal cushing syndrome, cardiac and liver diseases
- Thick corpus callosum: An underrecognised but important diagnostic clue
- Turner Syndrome and Neurofibromatosis 1: Rare Co-Existence with Important Clinical Implications
- Unknown case: Low back pain in a patient with café au lait spots
- Unusual presentation of GIST associated with type 1 neurofibromatosis: A case report
- Updated Approach to Patients with Multiple Café au Lait Macules
- Use of Reflectance Confocal Microscopy to Predict Treatment Efficacy in Café Au Lait Macules
- Value of a café-au-lait macules screening clinic: Experience from The Hospital for Sick Children in Toronto