Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families-Reference-Cited by-同舟云学术

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Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families

Published:2024-06-14 Issue:1 Volume:51 Page:
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Ozturk Murat,Ates Kubra,Esener Zeynep,Mutlu Hatice,Aydogmus Cigdem,Boztug Kaan,Sarac Hatice,Gezdirici Alper,Dogan Mustafa,Beser Omer Faruk,Varol Fatma Ilknur,Gokce Ismail Kursat,Ozdemir Ramazan,Tekedereli Ibrahim

Publisher

Springer Science and Business Media LLC

Link

https://link.springer.com/content/pdf/10.1007/s11033-024-09656-6.pdf

Reference35 articles.

1. Taher ZA et al (2020) A new variant mutation in SKIV2L Gene in Case of Trichohepatoenteric Syndrome. Pediatr Rep 12(3):93–97

2. Verloes A et al (1997) Tricho-Hepato-enteric syndrome: further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies. Am J Med Genet 68(4):391–395

3. Baynam G et al (2017) Initiating an undiagnosed diseases program in the western Australian public health system. Orphanet J Rare Dis 12(1):83

4. Hartley JL et al (2010) Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy). Gastroenterology 138(7):2388–2398

5. Lee WS et al (2016) Novel mutations in SKIV2L and TTC37 genes in Malaysian children with trichohepatoenteric syndrome. Gene 586(1):1–6

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