Ontology highlight
ABSTRACT:
SUBMITTER: Matera I
PROVIDER: S-EPMC4970688 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Matera Ivana I Rusmini Marta M Guo Yiran Y Lerone Margherita M Li Jiankang J Zhang Jianguo J Di Duca Marco M Nozza Paolo P Mosconi Manuela M Pini Prato Alessio A Martucciello Giuseppe G Barabino Arrigo A Morandi Francesco F De Giorgio Roberto R Stanghellini Vincenzo V Ravazzolo Roberto R Devoto Marcella M Hakonarson Hakon H Ceccherini Isabella I
European journal of human genetics : EJHG 20160127 8
Chronic intestinal pseudo-obstruction (CIPO) syndromes are heterogeneous gastrointestinal disorders, caused by either neuropathy or myopathy, resulting in compromised peristalsis and intestinal obstruction. CIPO can have a profound impact on quality of life, leading the most severely affected individuals to life-long parenteral nutrition and urinary catheterization. To search for disease causing gene(s), we performed the whole exome sequencing (WES) in both eight sporadic and two familial cases, ...[more]