A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement
Author:
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology, and Child Health
Reference11 articles.
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3. Hereditary causes of kidney stones and chronic kidney disease;Edvardsson;Pediatr Nephrol,2013
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1. Hypotonia-Cystinuria Syndrome;Genetic Syndromes;2023
2. Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome;Molecular Syndromology;2022
3. Hypotonia–cystinuria 2p21 deletion syndrome: Intrafamilial variability of clinical expression;Annals of Clinical and Translational Neurology;2021-10-06
4. Amino Acid Transport Defects in Human Inherited Metabolic Disorders;International Journal of Molecular Sciences;2019-12-23
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