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- Title
Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome.
- Authors
Oz‐Levi, D.; Weiss, B.; Lahad, A.; Greenberger, S.; Pode‐Shakked, B.; Somech, R.; Olender, T.; Tatarsky, P.; Marek‐Yagel, D.; Pras, E.; Anikster, Y.; Lancet, D.
- Abstract
The article presents a case study of 4-year-old girl with trichohepatoenteric syndrome (THS), a rare form of congenital diarrhea, in which whole-exome sequencing was used as a routine clinical diagnostics tool. The patient's exome sequencing revealed 590 rare homozygous variants and found TTC37 homozygous missense mutation. The findings determined that whole-exome sequencing may be successfully used for undiagnosed patients.
- Subjects
NUCLEOTIDE sequence; TRICHOHEPATOENTERIC syndrome; CONGENITAL disorders; DIARRHEA in infants; DIFFERENTIAL diagnosis
- Publication
Clinical Genetics, 2015, Vol 87, Issue 6, p602
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.12494