Neurofibromatosis type 1 and X-linked ichthyosis in a patient with a novel frameshift mutation in the NF1 gene
Author:
Publisher
John Libbey Eurotext
Subject
Dermatology
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. The Rare Presence of Two Genetic Disorders (Neurofibromatosis 1 and X-Linked Recessive Ichthyosis) in a Single Patient;Indian Journal of Dermatology;2023-11
2. A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome;European Journal of Medical Genetics;2021-05
3. A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report;BMC Neurology;2020-09-01
4. Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series;British Journal of Dermatology;2018-09-11
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