A Case of Hypotonia-Cystinuria Syndrome With Genito-Urinary Malformations and Extrarenal Involvement

Hypotonia-Cystinuria syndrome (HCS) is a rare disease, caused by a mutation in two contiguous genes (SLC3A1 and PREPL) localized on chromosome 2p21, and it is characterized by both renal involvement with cystine stones and nervous involvement with hypotonia. We here describe a 2 years old child with...

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Detalles Bibliográficos
Autores principales: Taroni, Francesca, Capone, Valentina, Berrettini, Alfredo, De Marco, Erika Adalgisa, Manzoni, Gian Antonio, Montini, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465885/
https://www.ncbi.nlm.nih.gov/pubmed/31024870
http://dx.doi.org/10.3389/fped.2019.00127

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465885/
https://www.ncbi.nlm.nih.gov/pubmed/31024870
http://dx.doi.org/10.3389/fped.2019.00127

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