Exome sequencing identifies a novel TTC37 mutation in the first reported case of Trichohepatoenteric syndrome (THE-S) in South Africa

BACKGROUND: Trichohepatoenteric syndrome (THE-S) or phenotypic diarrhoea of infancy is a rare autosomal recessive disorder characterised by severe infantile diarrhoea, facial dysmorphism, immunodeficiency and woolly hair. It was first described in 1982 in two infants with intractable diarrhoea, live...

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Опубликовано в: :BMC Med Genet
Главные авторы: Kinnear, Craig, Glanzmann, Brigitte, Banda, Eric, Schlechter, Nikola, Durrheim, Glenda, Neethling, Annika, Nel, Etienne, Schoeman, Mardelle, Johnson, Glynis, van Helden, Paul D., Hoal, Eileen G., Esser, Monika, Urban, Michael, Möller, Marlo
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2017
Предметы:
Research Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5351214/
https://ncbi.nlm.nih.gov/pubmed/28292286
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0388-5
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