Spectrum of mutations in cystinuria patients presenting with prenatal hyperechoic colon.

This study shows a relationship between genotype and the clinical form of cystinuria, suggesting that only the patients with the most severe mutations presented with an HEC. These results emphasized the need for prenatal cystinuria screening using classical third-trimester ultrasound scan and the early management of suspected newborns. PMID: 28646536 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/28646536?dopt=Abstract

Source: Clinical Genetics - June 24, 2017 Category: Genetics & Stem Cells Authors: Tostivint I, Royer N, Nicolas M, Bourillon A, Czerkiewicz I, Becker PH, Muller F, Benoist JF Tags: Clin Genet Source Type: research