Associated Papers
The clinical and genetic profiles of spinal muscular atrophy with respiratory distress type 1 and identification of a novel mutation in IGHMBP2 in China.
Wang Y et al.
Frontiers in Genetics, 2025
Novel mutation in the IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1: A case report.
Zhu J et al.
Heliyon, 2024
[Variant analysis and prenatal diagnosis for two Chinese pedigrees affected with Spinal muscular atrophy with respiratory distress type 1].
Li H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
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