Article
Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis.
European journal of medical genetics - 1 Jun 2023
Bulut Fatma Derya, Kor Deniz, Kılavuz Sebile, Şeker Yılmaz Berna, Kaplan İrem, Ekinci Faruk, Burgaç Ezgi, Varol İlknur, Köşeci Burcu, Tuğ Bozdoğan Sevcan, Kara Esra, Demir Fadli, Deniz Ali, Temiz Fatih, Önenli Mungan Neslihan
Abstract excerpt
Gaucher disease (GD) is the most frequent lysosomal storage disorder due to biallelic pathogenic variants in GBA gene. Only homozygous D409H variant has been associated with the cardiovascular phenotype which is also known as Gaucher disease type 3c. In this descriptive study, we presented phenotypic heterogeneity and a novel clinical finding among 13 patients with GD type 3c. Patients presented with varying...
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