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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:J Clin Res Pediatr Endocrinol
Main Authors: Poyrazoğlu, Şükran, Hwa, Vivian, Baş, Firdevs, Dauber, Andrew, Rosenfeld, Ron, Darendeliler, Feyza
Format: Artigo
Jezik:Inglês
Izdano: Galenos Publishing 2019
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6878349/
https://ncbi.nlm.nih.gov/pubmed/30717585
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.galenos.2019.2018.0301
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki