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Compound Heterozygous Variants in MAPK8IP3 Were Detected in Severe Congenital Hypotonia Mimicking Lethal Spinal Muscular Atrophy

Compound Heterozygous Variants in MAPK8IP3 Were Detected in Severe Congenital Hypotonia Mimicking Lethal Spinal Muscular Atrophy

Authors: Kárteszi J, Ziegler A, Tihanyi M, Elmont B, Zhang Y, Patócs B, Molnár MJ, Méhes G, Wells K, Jakus R, Bessenyei B, Ranatunga W, Morava É

Citation: Am J Med Genet A. 2023 Jul 18. doi: 10.1002/ajmg.a.63340. Online ahead of print.

Specialties: Genetics, Neurology

Disclaimer: One or more of the authors of this publication were employed at the time by Blueprint Genetics, a subsidiary of Quest Diagnostics.

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