نتایج جستجو برای: trichorrhexis invaginata

تعداد نتایج: 61  

2016
Wen-I Lee Jing-Long Huang Chien-Chang Chen Ju-Li Lin Ren-Chin Wu Tang-Her Jaing Liang-Shiou Ou

Syndromic diarrhea/tricho-hepato-enteric syndrome (SD/ THE) is a rare, autosomal recessive and severe bowel disorder mainly caused by mutations in the tetratricopeptide repeat domain 37 (TTC37) gene which act as heterotetrameric cofactors to enhance aberrant mRNAs decay. The phenotype and immune profiles of SD/THE overlap those of primary immunodeficiency diseases (PIDs). Neonates with intracta...

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