Case Report
Published on 11 May 2018
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome
in Primary Immunodeficiencies
Frontiers in Immunology
doi 10.3389/fimmu.2018.01036
- 7,656 views
- 38 citations
5 articles related to "Trichohepatoenteric Syndrome"
Articles
Original Research
Published on 30 Jan 2015
Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome
in Pediatric Immunology
Frontiers in Pediatrics
doi 10.3389/fped.2015.00002
- 9,281 views
- 30 citations
Case Report
Published on 06 Oct 2021
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2
in Genetics of Common and Rare Diseases
Frontiers in Genetics
doi 10.3389/fgene.2021.756451
- 3,332 views
- 5 citations
Case Report
Published on 27 Apr 2022
Case Report: A Novel Homozygous Frameshift Mutation of the SKIV2L Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis
in Human and Medical Genomics
Frontiers in Genetics
doi 10.3389/fgene.2022.879899
- 3,555 views
- 5 citations
General Commentary
Published on 16 Apr 2015
Corrigendum: Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric Syndrome
in Pediatric Immunology
Frontiers in Pediatrics
doi 10.3389/fped.2015.00028
- 5,631 views
- 4 citations