Ontology highlight
ABSTRACT:
SUBMITTER: Avitzur Y
PROVIDER: S-EPMC4002656 | biostudies-literature | 2014 Apr
REPOSITORIES: biostudies-literature
Avitzur Yaron Y Guo Conghui C Mastropaolo Lucas A LA Bahrami Ehsan E Chen Hannah H Zhao Zhen Z Elkadri Abdul A Dhillon Sandeep S Murchie Ryan R Fattouh Ramzi R Huynh Hien H Walker Jennifer L JL Wales Paul W PW Cutz Ernest E Kakuta Yoichi Y Dudley Joel J Kammermeier Jochen J Powrie Fiona F Shah Neil N Walz Christoph C Nathrath Michaela M Kotlarz Daniel D Puchaka Jacek J Krieger Jonathan R JR Racek Tomas T Kirchner Thomas T Walters Thomas D TD Brumell John H JH Griffiths Anne M AM Rezaei Nima N Rashtian Parisa P Najafi Mehri M Monajemzadeh Maryam M Pelsue Stephen S McGovern Dermot P B DP Uhlig Holm H HH Schadt Eric E Klein Christoph C Snapper Scott B SB Muise Aleixo M AM
Gastroenterology 20140111 4
<h4>Background & aims</h4>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.<h4>Methods</h4>We performed whole exome sequencing of DNA from 1 infant with severe enterocolitis and her parents. Candidate gene mutations were validated in 40 pediatric patients and functional studies we ...[more]