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

• Main Authors: Şükran Poyrazoğlu (Author), Vivian Hwa (Author), Firdevs Baş (Author), Andrew Dauber (Author), Ron Rosenfeld (Author), Feyza Darendeliler (Author)
• Format: Book
• Published: Galenos Yayincilik, 2019-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...