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June 10, 2024

[Clinical and genetic analysis of a child with X-linked mental retardation due to variant of SLC9A7 gene].

Wei Li Tianjiao Fu Spana Tamang Yao Wang Huaili Wang Zhihong Zhuo

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Abstract

To explore the clinical and genetic characteristics of a child with mental retardation, language and motor developmental delay and epilepsy.

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Cite This Study

Li et al. (2024) studied this question.

synapsesocial.com/papers/68e65761b6db6435875e5d4e https://doi.org/10.3760/cma.j.cn511374-20230421-00226

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Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1[Analysis of a child with developmental disorder and epilepsy due to a homozygous variant of SLC25A12 gene].2024
2[Clinical and genetic analysis of a child with X-linked intellectual developmental disorder due to a novel variant of NEXMIF gene].2024
3Identification of Two Rare Variants in SLC2A1 and SMC1A in a Child with Epilepsy and Behavioral Disorders: A Case Report from Côte d’IvoireCase Report · 2026
4A recurrent missense variant in <i>SLC9A7</i> causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylationOriginal Research · 2018 · 38 citations
5Biallelic Variant in <scp><i>SLC6A17</i></scp> in a Pakistani Family With Autosomal Recessive Intellectual Disability2025