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

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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Bibliographic Details
Main Authors: Şükran Poyrazoğlu, Vivian Hwa, Firdevs Baş, Andrew Dauber, Ron Rosenfeld, Feyza Darendeliler
Format: Article
Language:English
Published: Galenos Yayincilik 2019-12-01
Series:JCRPE
Subjects:
short stature
acid-labile subunit deficiency
igfals gene mutation
primary igf-1 deficiency
Online Access: http://www.jcrpe.org/archives/archive-detail/article-preview/a-novel-homozygous-mutation-of-the-acid-labile-sub/22930

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http://www.jcrpe.org/archives/archive-detail/article-preview/a-novel-homozygous-mutation-of-the-acid-labile-sub/22930

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