Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ikuko Kageyama"'
Publikováno v:
Human Genome Variation, Vol 11, Iss 1, Pp 1-3 (2024)
Abstract Biallelic IGFALS variants lead to acid‒labile subunit (ALS) deficiency characterized by growth hormone resistance with or without delayed puberty. Here, we report a prepubertal boy with a homozygous 2-amino acid deletion within the fourth
Externí odkaz:
https://doaj.org/article/e3ea706333054b0d843a826af12fab5a
Publikováno v:
American Journal of Medical Genetics Part A. 188:2173-2177