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A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene.
Bitner-Glindzicz M, Lindley KJ, Rutland P, Blaydon D, Smith VV, Milla PJ, Hussain K, Furth-Lavi J, Cosgrove KE, Shepherd RM, Barnes PD, O'Brien RE, Farndon PA, Sowden J, Liu XZ, Scanlan MJ, Malcolm S, Dunne MJ, Aynsley-Green A, Glaser B. Bitner-Glindzicz M, et al. Among authors: milla pj. Nat Genet. 2000 Sep;26(1):56-60. doi: 10.1038/79178. Nat Genet. 2000. PMID: 10973248
Intestinal neuronal dysplasia.
Milla PJ, Smith VV. Milla PJ, et al. J Pediatr Gastroenterol Nutr. 1993 Nov;17(4):356-7. doi: 10.1097/00005176-199311000-00003. J Pediatr Gastroenterol Nutr. 1993. PMID: 8145087 Review. No abstract available.
179 results