ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS
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Abstract
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ALS deficiency (ACLSD), caused by mutations in IGFALS, is characterized by a mild short stature, low concentrations of IGF-I and IGFBP-3, and a normal growth hormone (GH) stimulation test res...
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Dominguez-Menéndez G, Poggi Mayorga H, Arancibia M, Benavides F, Martinez-Aguayo A. ALS deficiency caused by an exon 2 deletion and a novel missense variant in the gene encoding ALS. Growth Horm IGF Res. 2019 Oct-Dec;48-49:5-8. doi: 10.1016/j.ghir.2019.07.002
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