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注意：仅列出部分参考文献，下载原文获取全部文献信息。A Small Homozygous Microdeletion of 15q13.3 Including the CHRNA7 Gene in a Girl With a Spectrum of Severe Neurodevelopmental Features
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Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings
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Homozygous Loss of CHRNA7 on Chromosome 15q13.3 Causes Severe Encephalopathy With Seizures and Hypotonia
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Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
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Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
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Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
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A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes
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