Cystinosis and two rare mutations in CTNS gene: two case reports.
Gholami Yarahmadi S, Sarlaki F, Morovvati S.
Gholami Yarahmadi S, et al.
J Med Case Rep. 2022 May 6;16(1):181. doi: 10.1186/s13256-022-03379-7.
J Med Case Rep. 2022.
PMID: 35513889
Free PMC article.
At least 148 different pathogenic and deleterious mutations in the CTNS gene have been reported to date. Owing to our patient's prominent clinical features of cystinosis, we carried out a targeted search for mutations in the CTNS gene. ...
At least 148 different pathogenic and deleterious mutations in the CTNS gene have been reported to date. Owing to our patient's promi …