Article
Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
Gastroenterology - 1 Apr 2014
Avitzur Yaron, Guo Conghui, Mastropaolo Lucas A, Bahrami Ehsan, Chen Hannah, Zhao Zhen, Elkadri Abdul, Dhillon Sandeep, Murchie Ryan, Fattouh Ramzi, Huynh Hien, Walker Jennifer L, Wales Paul W, Cutz Ernest, Kakuta Yoichi, Dudley Joel, Kammermeier Jochen, Powrie Fiona, Shah Neil, Walz Christoph, Nathrath Michaela, Kotlarz Daniel, Puchaka Jacek, Krieger Jonathan R, Racek Tomas, Kirchner Thomas, Walters Thomas D, Brumell John H, Griffiths Anne M, Rezaei Nima, Rashtian Parisa, Najafi Mehri, Monajemzadeh Maryam, Pelsue Stephen, McGovern Dermot P B, Uhlig Holm H, Schadt Eric, Klein Christoph, Snapper Scott B, Muise Aleixo M
Abstract excerpt
BACKGROUND & AIMS: Very early onset inflammatory bowel diseases (VEOIBD), including infant disorders, are a diverse group of diseases found in children younger than 6 years of age. They have been associated with several gene variants. Our aim was to identify the genes that cause VEOIBD. METHODS: We performed whole exome sequencing of DNA from 1 infant with severe enterocolitis and her parents. Candidate gene...
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