Associated Papers
NGLY1 deficiency - clinical features and therapeutic strategy.
Fujihira H et al.
Journal of Human Genetics, 2025
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry.
Stanclift CR et al.
Orphanet Journal of Rare Diseases, 2022
36528660 (PubMed )
Supplement: 13023_2022_2592_MOESM1_ESM.docx
Expanding DSD Phenotypes Associated with Variants in the DEAH-Box RNA Helicase DHX37.
Zidoune H et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2021
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