New ocular findings in a patient with a novel pathogenic variant in the FBXO11 gene
Author:
Publisher
Elsevier BV
Subject
Ophthalmology,Pediatrics, Perinatology and Child Health
Reference6 articles.
1. De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms;Jansen;Eur J Hum Genet,2019
2. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies;Fritzen;Hum Genet,2018
3. De novo variants in the F-box protein FBXO11 in 20 individuals with a variable neurodevelopmental disorder;Gregor;Am J Hum Genet,2018
4. De novo missense variants in FBXO11 alter its protein expression and subcellular localization;Gregor;Hum Mol Genet,2021
5. The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant;Lee;Am J Med Genet A,2020
Cited by 3 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. How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype;European Journal of Medical Genetics;2024-06
2. FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals;Journal of Human Genetics;2024-05-13
3. FBXO11 Variants are Associated with Intellectual Disability and Variable Clinical Manifestation in Chinese Patients;2023-10-28
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