Associated Papers
[Monogenic Kidney Diseases in Children - Five Years of Experience from a Dedicated Nephrogenetic Clinic in Southern Israel].
Schreiber R et al.
Harefuah, 2025
Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.
Dolgin V et al.
Jimd Reports, 2025
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.
Lipov A et al.
Nature Cardiovascular Research, 2023
38666070 (PubMed )
Supplement: 44161_2023_346_MOESM1_ESM.pdf
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis.
Johansson J et al.
American Journal of Medical Genetics. Part A, 2022
Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy.
Lieberwirth JK et al.
European Journal of Human Genetics : Ejhg, 2021
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