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

• Main Authors: Francesca Taroni (Author), Valentina Capone (Author), Alfredo Berrettini (Author), Erika Adalgisa De Marco (Author), Gian Antonio Manzoni (Author), Giovanni Montini (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...