Results 21 to 30 of about 38,064 (238)
Neurofibromatosis type I (NF1) and bone involvement in a pediatric setting: insights from FGF23 levels [PDF]
Italian Journal of PediatricsBackground Neurofibromatosis type I (NF1) is an autosomal dominant disorder characterized by extremely different phenotypes, sometimes including reduced bone mass.
Giulia Rodari +14 more
doaj +2 more sources
Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report [PDF]
Radiology Case Reports, 2022 Neurofibromatosis is a rare genetic disorder that typically affects the nerves and causes benign tumors. It also affects different parts of the body, including the bone, skin, and genitourinary system. We report a case of a 6-year-old girl medically free
Ayman Khushaim, MD +2 more
doaj +2 more sources
Bioethical aspects in type I neurofibromatosis [PDF]
Romanian Journal of Pediatrics, 2021 Type I neurofibromatosis is one of the most common monogenic disorders, being caused by abnormalities of the neurofibromin gene on chromosome 17. About half of the cases are inherited, respecting the autosomal dominant inheritance criteria, the rest are ...
Codruta Diana Petchesi +4 more
doaj +1 more source
A CASE OF NEUROFIBROMATOSIS TYPE 1 [PDF]
Journal of IMAB, 2008 Neurofibromatosis (NF) is a term that has been applied to a variety of related syndromes, characterized by neuroectodermal tumors arising within multiple organs and autosomal-dominant inheritance.
Valentina Dimitrova +6 more
doaj +1 more source
Clinical Masks of Neurofibromatosis Type 1
Архивъ внутренней медицины, 2022 Neurofibromatosis type 1 is the most common autosomal dominant tumor syndrome. The prevalence of the disease is 1 in 3000 people. Neurofibromatosis type 1 is characterized by the gradual appearance of signs of the disease and pronounced clinical ...
R. N. Mustafin
doaj +1 more source
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +7 more sources
NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]
, 2013 Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S +2 more
core +3 more sources
Ibom Medical Journal, 2022 Plexiform neurofibromatosis is reported to occur in 26.7% of patients with type I neurofibromatosis. Plexiform neurofibromas present at, or soon after, birth as areas of hyperpigmentation, thickening of the skin and excess hair.
Udeagu GC, Njeze NR, Ukwuaku CC
doaj +1 more source
Thoracoscopic plication for a huge thoracic meningocele in a patient with Neurofibromatosis [PDF]
, 2014 Intrathoracic meningoceles associated with neurofibromatosis type I are rare, and the optimal treatment is still unknown. Herein, we present the case of a 48-year-old Asian female with a huge thoracic meningocele associated with cutaneous ...
Bing-Yen Wang +3 more
core +2 more sources
Understanding intellectual disability through RASopathies [PDF]
, 2014 Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the
Pagani, Mario Rafael +1 more
core +1 more source