Characterization of four Latin American families confirms previous findings and reveals novel features of acid-labile subunit deficiency.

Abstract

OBJECTIVE Acid-labile subunit deficiency (ACLSD), caused by inactivating mutations in both IGFALS gene alleles, is characterized by marked reduction in IGF-I and IGFBP-3 levels associated with mild growth retardation. The aim of this study was to expand the known phenotype and genetic characteristics of ACLSD by reporting data from four index cases and… (More)
DOI: 10.1111/cen.13361

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