Phenotypic diversity and immunodeficiency in Trichohepatoenteric Syndrome: a case series analysis

Trichohepatoenteric Syndrome (THES) is a rare autosomal recessive disorder caused by mutations in the TTC37 or SKIV2L genes, characterised by chronic intractable diarrhoea in infancy, woolly hair, facial dysmorphism, failure to thrive, recurrent infections, and, in some cases, liver and platelet abn...

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Main Authors:	Mohamed Nashrudin, Khairoon Nisa, Ismail, Intan Hakimah, Zainal Abidin, Mohd Azri, Zakaria, Noorzeehan, Safwan, Muhammad Shafiq, Abdul Jabar, Siti Wardah, Ramli, Farizza Hazlin, Thong, Pui Ling, Ng, Ruey Terng, Ong, Sik Yong
Format:	Conference or Workshop Item
Language:	en
Published:	2024
Online Access:	http://psasir.upm.edu.my/id/eprint/121354/1/121354.pdf http://psasir.upm.edu.my/id/eprint/121354/
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