Journal of clinical research in pediatric endocrinology
A Novel Biallelic Variant in The SERPINH1 Gene in Two Siblings Diagnosed with Osteogenesis Imperfecta Type X: Evidence of Intrafamilial Clinical Variability.
Akçahan Akalın, İsmet Rezani Toptancı, Şervan Özalkak, Ruken Yıldırım
Published: 202510.4274/jcrpe.galenos.2025.2025-8-5
Abstract
Osteogenesis imperfecta (OI) is a genetically and phenotypically heterogeneous group of disorders primarily characterized by bone fragility, impaired growth, and skeletal deformities. Although OI was historically attributed to monoallelic pathogenic…
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