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Article

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

Clinical endocrinology - 1 Sept 2017

Scaglia Paula A, Keselman Ana C, Braslavsky Débora, Martucci Lucía C, Karabatas Liliana M, Domené Sabina, Gutiérrez Mariana L, Ballerini María G, Ropelato María G, Spinola-Castro Angela, Siviero-Miachon Adriana A, Tartuci Juliana Saito, Rodríguez Azrak María Sol, Rey Rodolfo A, Jasper Héctor G, Bergadá Ignacio, Domené Horacio M

Abstract excerpt

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 their families. DESIGN: Auxological data, biochemical and...

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Identifiers

PMID: 28445628
DOI: 10.1111/cen.13361

Genes

IGFALS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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