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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Detaylı Bibliyografya
Yayımlandı:Front Pediatr
Asıl Yazarlar: Taroni, Francesca, Capone, Valentina, Berrettini, Alfredo, De Marco, Erika Adalgisa, Manzoni, Gian Antonio, Montini, Giovanni
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Frontiers Media S.A. 2019
Konular:
Pediatrics
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC6465885/
https://ncbi.nlm.nih.gov/pubmed/31024870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00127
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