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A Novel Homozygous Mutation of the Acid-Labile Subunit (IGFALS) Gene in a Male Adolescent

Acid-labile subunit (ALS) forms ternary complexes with insulin like growth factor-1 (IGF-1) and IGF-binding protein-3 (IGFBP-3) and is essential for normal circulating IGF-1 levels. The IGFALS gene encodes the ALS and mutations in IGFALS cause ALS deficiency. We describe a patient with ALS deficienc...

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Detalles Bibliográficos
Autores principales:	Poyrazoğlu, Şükran, Hwa, Vivian, Baş, Firdevs, Dauber, Andrew, Rosenfeld, Ron, Darendeliler, Feyza
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878349/ https://www.ncbi.nlm.nih.gov/pubmed/30717585 http://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0301

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