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Cat eye syndrome: Clinical, cytogenetics and familial findings in a large cohort of 43 patients highlighting the importance of congenital heart disease and inherited cases.
Am J Med Genet A. 2024 Apr;194(4):e63476. doi: 10.1002/ajmg.a.63476. Epub 2023 Nov 16.
Am J Med Genet A. 2024.
PMID: 37974505
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.
Brancati F, Travaglini L, Zablocka D, Boltshauser E, Accorsi P, Montagna G, Silhavy JL, Barrano G, Bertini E, Emma F, Rigoli L; International JSRD Study Group; Dallapiccola B, Gleeson JG, Valente EM.
Brancati F, et al.
Clin Genet. 2008 Aug;74(2):164-70. doi: 10.1111/j.1399-0004.2008.01047.x. Epub 2008 Jun 28.
Clin Genet. 2008.
PMID: 18565097
Free PMC article.
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Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.
Megremis S, Mitsioni A, Fylaktou I, Tzeli SK, Komianou F, Stefanidis CJ, Kanavakis E, Traeger-Synodinos J.
Megremis S, et al. Among authors: tzeli sk.
Eur J Pediatr. 2011 Dec;170(12):1529-34. doi: 10.1007/s00431-011-1450-5. Epub 2011 Apr 16.
Eur J Pediatr. 2011.
PMID: 21499692
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