Plasschaert E, Descheemaeker MJ, Van Eylen L, et al. Prevalence of Autism Spectrum Disorder symptoms in children with neurofibromatosis type 1. Am J Med Genet B Neuropsychiatr Genet 2015; 168B:72. Hyman SL, Shores A, North KN. The nature and frequency of cognitive deficits in children ...
In childhood, the diagnosis often seems to be difficul t because the symptoms are age dependent. Patients and methods. A total of 28 NF 1 children and adolescents aged from 6 months to 17 years were investigated over 7 years. Distinct symptoms were documented for the NIH criteria ...
13.NHS. Neurofibromatosis Type 1, Symptoms. Available at https://www.nhs.uk/conditions/neurofibromatosis-type-1/symptoms. Accessed July 2022.
In con- trast, subcutaneous neurofibromas arise from deeper nerves and are generally firm. Deep visceral neurofibromas may cause symptoms by compressing vital structures, such as is seen in spinal cord compression from dorsal root neurofi- bromas. Although young children may have some neurofi- ...
如果筛查为阴性,则考虑进行嗜铬细胞瘤的评估。对于肾动脉狭窄或嗜铬细胞瘤患者,纠正基础病变后血压通常会下降[41]。(参见“儿童动态血压监测”和“儿童和青少年高血压的非紧急治疗”和“儿童及青少年高血压的评估”和“Pheochromocytoma and paraganglioma in children”和‘针对NF1成人的监测’)...
RNF135 loss-of-function mutations, as well as an NF1-REP A to NF1- REP B deletion including this gene, have been implicated in an overgrowth syndrome where symptoms include tall stature or a large head circumference at least 2 standard deviations (SD) above the mean, dysmorphic features,...
NF1 is caused by a spontaneous or inherited mutation in the NF1 gene and affects newborns with many symptoms, including soft lumps on and under the skin, and skin pigmentation. Neurofibromatosis can also lead to benign tumours on the nerve sheaths (plexiform neurofibromas) in approximately 20-50...
Neurofibromatosis Type 1 (NF1) plexiform neurofibromas (pNFs) are associated with a variety of symptoms and concerns that affect patients’ quality of life... JS Lai,SE Jensen,ZS Patel,... - 《American Journal of Medical Genetics Part A》 被引量: 3发表: 2017年 Understanding chronic pain i...
in the index patient.12 It is likely that the athypical symptoms observed in this patient resulted from the additive effect of two mutations European Journal of Human Genetics p.Arg1809Cys substitution in neurofibromin V Pinna et al 1071 affecting different genes, as reported in some subjects ...
(Table1). These findings confirmed that patients with non-mosaic type-1NF1deletions exhibit, as a group, a severe form of NF1. However, even within this group of patients that are hemizygous for the same number of genes, some variability in expression of the clinical symptoms has been ...