References
- Stanghellini V, Cogliandro RF, de Giorgio R, et al. Chronic intestinal pseudo-obstruction: manifestations, natural history and management. Neurogastroenterol Motil. 2007;19(6):440–452.
- De Giorgio R, Cogliandro RF, Barbara G, et al. Chronic intestinal pseudo-obstruction: clinical features, diagnosis and therapy. Gastroenterol Clin North Am. 2011;40(4):787–807.
- Gabbard SL, Lacy BE. Chronic intestinal pseudo-obstruction. Nutr Clin Pract. 2013;28(3):307–316.
- Sipponen T, Karikoski R, Nuutinen H, et al. Three-generation familial visceral myopathy with alpha-actin-positive inclusion bodies in intestinal smooth muscle. J Clin Gastroenterol. 2009;43(5):437–443.
- Lehtonen HJ, Sipponen T, Tojkander S, et al. Segregation of missense variant in smooth muscle actin gamma-2 with autosomal dominant visceral myopathy. Gastroenterology. 2012;143(6):1482–1491.
- Milunsky A, Baldwin C, Zhang X, et al. Diagnosis of chronic intestinal pseudo-obstruction and megacystis by sequencing the ACTG2 gene. J Pediatr Gastroenterol Nutr. 2017;65(4):384–387.
- Auricchio A, Brancolini V, Casari G, et al. The locus for a novel syndromic form of neuronal intestinal pseudo-obstruction maps to Xq28. Am J Hum Genet. 1996;58(4):743–748.
- Gargiulo A, Auricchio R, Barone M, et al. Filamin A is mutated in X-linked chronic intestinal pseudo-obstruction with central nervous involvement. Am J Hum Genet. 2007;80(4):751–758.
- Deglincerti A, De Giorgio R, Cefle K, et al. A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. Eur J Hum Genet. 2007;15(8):889–897.
- Roy AD, Bharucha H, Nevin NC, et al. Idiopathic intestinal pseudo-obstruction: a familial visceral neuropathy. Clin Genet. 2008;18(4):291–297.
- Mayer EA, Schuffler MD, Rotter JI, et al. Familial visceral neuropathy with autosomal dominant transmission. Gastroenterology. 1986;91(6):1528–1535.
- Camilleri M, Carbone LD, Schuffler MD. Familial enteric neuropathy with pseudoobstruction. Digest Dis Sci. 1991;36(8):1168–1171.
- Ahlfors F, Linander H, Lindström M, et al. Familial intestinal degenerative neuropathy associated with chronic intestinal pseudo-obstruction. Neurogastroenterol Mot. 2011;23(4):347–355.
- Carén H, Erichsen J, Olsson L, et al. High-resolution array copy number analyses for detection of deletion, gain, amplification and copy-neutral LOH in primary neuroblastoma tumors: four cases of homozygous deletions of the CDKN2A gene. BMC Genomics. 2008;9:353.
- Ohlsson M, Hedberg C, Brådvik B, et al. Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. Brain. 2012;135(6):1682–1694.
- Agréus L. The epidemiology of functional gastrointestinal disorders. Europ J Surg Suppl. 1998;583:60–66.
- Potocki L, Bi W, Treadwell-Deering D, et al. Characterization of Potocki–Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet. 2007;80(4):633–649.
- Depienne C, Moreno-De-Luca D, Heron D, et al. Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders. Biol Psychiatry. 2009;66(4):349–359.
- Clayton-Smith J, Walters S, Hobson E, et al. Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. Eur J Hum Genet. 2009;17(4):434–443.