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Article

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

BMC medical genetics - 14 Mar 2017

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

Abstract excerpt

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, liver cirrhosis and abnormal hair structure on microscopy. We report on two siblings from a consanguineous family of...

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Identifiers

PMID: 28292286
DOI: 10.1186/s12881-017-0388-5
PMCID: PMC5351214

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