The First Registered Type 0 Spinal Muscular Atrophy Patient in Latvia: Call for Change in Prenatal Diagnostic Procedures by Tīna Luīze Čupāne, Mikus Dīriks, Gita Tauriņa, Liene Korņejeva, Linda Gailīte, Ieva Mālniece, Madara Auzenbaha

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Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome. by Michael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, Samantha Penney, Timothy Moss, Atul Chopra, Frank J Probst, Fan Xia, Yaping Yang, Steven Werlin, Ieva Eglite, Liene Kornejeva, Carlos A Bacino, Dustin Baldridge, Jeff Neul, Efrat Lev Lehman, Austin Larson, Joke Beuten, Donna M Muzny, Shalini Jhangiani, Baylor-Hopkins Center for Mendelian Genomics, Richard A Gibbs, James R Lupski, Arthur Beaudet

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