Spinal Muscular Atrophy Among US Hutterites: Phenotype Variability in the Setting of Conserved Ancestral Haplotype and 4 SMN2 Copies.

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DOI:10.1016/j.gim.2026.102535
作者：Matthew E R Butchbach,?Jennifer J Kale,?Sarah D Simeone,?Jin Yun Helen Chen,?Rebecca L Anderson,?Adriana Y Prichina,?Daniela Del Gaudio,?Deborah L Stabley,?Jennifer Holbrook,?Eliad Culcea,?Carole Ober
文献类型：期刊论文
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Elsevier

Abstract：Purpose: Ideal timing and treatment in asymptomatic newborns with 4 SMN2 copies remains controversial. We examined phenotypic variability among the Hutterite population with spinal muscular

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