Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease

Mutations in Tetratricopeptide Repeat Domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease

Yaron Avitzur, Conghui Guo, Lucas A. Mastropaolo et al. · Gastroenterology · 2014 · 207 citations · Full text

Medicine, Molecular Genetics, Molecular Medicine +14

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias

Rui Chen, Silvia Giliani, Gaetana Lanzi et al. · Journal of Allergy and Clinical Immunology · 2013 · 160 citations · Full text

Life Sciences, Immunology, Molecular Genetics +13

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

Alexandre Fabre, Bernard Charroux, Christine Martinez‐Vinson et al. · The American Journal of Human Genetics · 2012 · 158 citations · Full text

Medicine, Genetics, Molecular Genetics +8

Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

Jane Hartley, Nicholas C. Zachos, Ban B. Dawood et al. · Gastroenterology · 2010 · 152 citations · Full text

Medicine, Genetics, Molecular Genetics +14

Exome sequencing identifies mutations in the gene <i>TTC7A</i> in French-Canadian cases with hereditary multiple intestinal atresia

Mark E. Samuels, Jacek Majewski, Najmeh Alirezaie et al. · Journal of Medical Genetics · 2013 · 135 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16