A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference9 articles.
1. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
2. X-Linked Lissencephaly with Abnormal Genitalia Associated with Renal Phosphate Wasting
3. Agenesis of the Corpus Callosum, Abnormal Genitalia and Intractable Epilepsy due to a Novel Familial Mutation in the Aristaless-Related Homeobox Gene
4. Mutations of ARX are associated with striking pleiotropy and consistent genotype–phenotype correlation
5. Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
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1. Further characterisation ofARX-related disorders in females due to inherited or de novo variants;Journal of Medical Genetics;2023-10-25
2. ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons;Neuroscience;2017-08
3. X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia;Child Neurology Open;2017-01-01
4. Genetics of X-Linked Intellectual Disability;Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability;2016
5. Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX;European Journal of Human Genetics;2015-08-26
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