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Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy

Judit Kárteszi,Alban Ziegler,Mariann Tihanyi,Beatrix Elmont,Yuebo Zhang, Barbara Patócs,Mária Judit Molnár,Gábor Méhes,Kirsty Wells,Rita Jakus,Beáta Bessenyei,Wasantha Ranatunga,Éva Morava

American Journal of Medical Genetics - Part A（2023）

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关键词
severe congenital hypotonia,heterozygous variants
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