Expanding the clinical spectrum in trichohepatoenteric syndrome-Reference-Cited by-同舟云学术

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Expanding the clinical spectrum in trichohepatoenteric syndrome

Published:2021-05-26 Issue:10 Volume:185 Page:2873-2877
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Dorum Sevil¹^ORCID,Gorukmez Ozlem²^ORCID

Affiliation:

1. Division of Metabolism, Department of Pediatrics University of Health Sciences, Bursa Yuksek Ihtisas Training and Research Hospital Bursa Turkey

2. Department of Genetics University of Health Sciences, Bursa Yuksek Ihtisas Training and Research Hospital Bursa Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62354

Reference12 articles.

1. Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature

2. Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency

3. Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

4. Trichohepatoenteric Syndrome Presenting with Severe Infection and Later Onset Diarrhoea

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Trichohepatoenteric syndrome type 1: expanding the clinical spectrum of THES type 1 due to a homozygous variant in the SKIC3 gene;BMC Pediatrics;2024-07-10

2. Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families;Molecular Biology Reports;2024-06-14

3. Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant;BMJ Case Reports;2024-02

4. Trichohepatoenteric syndrome and cytomegalovirus infection: Case report and literature summary;SAGE Open Medical Case Reports;2024-01

5. SKI complex: A multifaceted cytoplasmic RNA exosome cofactor in mRNA metabolism with links to disease, developmental processes, and antiviral responses;WIREs RNA;2023-06-29

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