Torpedo Maculopathy Associated with NEXMIF Mutation
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference16 articles.
1. Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, et al: Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 164A:170-176 (2014).
2. Cantagrel V, Lossi AM, Boulanger S, Depetris D, Mattei MG, et al: Disruption of a new X-linked gene highly expressed in brain in a family with two mentally retarded males. J Med Genet 41:736-742 (2004).
3. Charzewska A, Rzońca S, Janeczko M, Nawara M, Smyk M, et al: A duplication of the whole KIAA2022 gene validates the gene role in the pathogenesis of intellectual disability and autism. Clin Genet 88:297-299 (2015).
4. de Lange IM, Helbig KL, Weckhuysen S, Møller RS, Velinov M, et al: De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy. J Med Genet 53:850-888 (2016).
5. Farach LS, Northrup H: KIAA2022 nonsense mutation in a symptomatic female. Am J Med Genet A 170:703-706 (2016).
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3. Infantile spasms caused by NEXMIF mutation: A case report and literature review;Applied Neuropsychology: Child;2023-06-14
4. Clinical evaluation of torpedo maculopathy in an infant population with additional genetic testing for NEXMIF mutation;Eye;2021-07-29
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