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February 10, 2024

[Variant analysis and prenatal diagnosis for two Chinese pedigrees affected with Spinal muscular atrophy with respiratory distress type 1].

Huijun Li Xiangyu Zhu Ying Yang Xing Wu Jie Li

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Abstract

To explore the genetic etiology of two children with Spinal muscular atrophy with respiratory distress type 1 (SMARD1), and prevent the recurrence of birth defects.

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Cite This Study

Li et al. (2024) studied this question.

synapsesocial.com/papers/68e79c4cb6db64358770b682 https://doi.org/10.3760/cma.j.cn511374-20221223-00886

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Keep reading

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

1The Clinical Heterogeneity of Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)—A Report of Three Cases, Including Twins2024 · 3 citations
2Case report: Heterozygous variation in the IGHMBP2 gene leading to spinal muscular atrophy with respiratory distress type 12024
3Unraveling the Genetic Mysteries of Spinal Muscular Atrophy in Chinese Families2024
4Unraveling the genetic mysteries of spinal muscular atrophy in Chinese familiescohort · 2025 · 2 citations
5[Clinical characteristics and genetics functional analysis of two children with Spinal muscular atrophy].2024

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Disease Mechanisms and Therapeutic Approaches in SMARD1—Insights from Animal Models and Cell Models2024
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Molecular Analysis and Prenatal Prediction of Spinal Muscular Atrophy in Chinese Patients by the Combination of Restriction Fragment Length Polymorphism Analysis, Denaturing High-Performance Liquid Chromatography, and Linkage Analysis2007