Associated Papers
Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.
Scaglia PA et al.
Clinical Endocrinology, 2017
Assessment of pathogenicity of natural IGFALS gene variants by in silico bioinformatics tools and in vitro functional studies.
Martucci LC et al.
Molecular and Cellular Endocrinology, 2016
Heterozygous IGFALS gene variants in idiopathic short stature and normal children: impact on height and the IGF system.
Domené HM et al.
Hormone Research in Paediatrics, 2013
Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium.
Fofanova-Gambetti OV et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
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