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Two Different Pathogenic Variants in a Family With Neurofibromatosis Type 1.
Cancer Genomics Proteomics
December 2024
Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Background/aim: Neurofibromatosis type 1 (NF1) is a genetic disorder with an incidence of approximately one in 3,000. More than half of the patients have new de novo pathogenic variants of the NF1 gene. In most family cases, all family members share an identical NF1-variant.
View Article and Find Full Text PDFClinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
View Article and Find Full Text PDFClinical and Molecular Profile of Neurofibromatosis Type 1 Patients Using Revised Diagnostic Criteria - A Retrospective Cohort Study.
Neurol India
November 2024
Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
Objective: To catalog and correlate the clinical features and mutational spectrum of neurofibromatosis type 1 (NF1) patients attending a tertiary care center in India.
Methods: NF1 patients with confirmed molecular diagnosis from 2014 to 2021 were included in the study. The molecular tests used for the diagnosis were exome sequencing, targeted gene sequencing, and Multiple Ligation Probe Assay.
Precocious Puberty in Children with Neurofibromatosis Type 1.
J Pediatr
December 2024
Department of Neurology, Washington University School of Medicine, St. Louis, MO. Electronic address:
This multi-institutional, descriptive study of 19 children with neurofibromatosis 1 examines the link between optic pathway gliomas (OPGs) and central precocious puberty (CPP). We report that CPP can arise without OPG chiasmal involvement and that prior OPG chemotherapy does not prevent the development of CPP.
View Article and Find Full Text PDF[Pituicitoma in a patient with neurofibromatosis type 1].
Medicina (B Aires)
December 2024
División de Endocrinología y Metabolismo, Hospital General de Agudos José María Ramos Mejía, Buenos Aires, Argentina. E-mail:
Pituicytoma is a rare low degree tumor that arises from pituicytes in the infundibulum and posterior pituitary gland. As they do not have characteristic radiological features, they can be misdiagnosed as pituitary adenoma, meningioma, or craniopharyngioma. Clinically, patients can present with hormonal disturbances, headaches and visual field defects.
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