Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature

Homozygous 6-bp deletion of IGFALS in a prepubertal boy with short stature

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 N-glycosylation motif (c.1103_1108del, p.N368_S370de...

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Bibliographic Details
Main Authors: Hibiki Doi, Ikuko Kageyama, Yuko Katoh-Fukui, Atsushi Hattori, Maki Fukami, Naoto Shimura
Format: Article
Language:English
Published: Nature Publishing Group 2024-07-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00285-w
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