Familial intestinal degenerative neuropathy with chronic intestinal pseudo-obstruction linked to a gene locus with duplication in chromosome 9.

Conclusions: In this family with autosomal dominant hereditary intestinal neuropathy, the disorder is linked to a 9.7 Mb region in Ch9 including a 1.2 Mb duplication. There is a significant difference in disease expressivity between family branches, seemingly related to separate maternal ancestors. PMID: 31814461 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31814461?dopt=Abstract

Source: Scandinavian Journal of Gastroenterology - December 11, 2019 Category: Gastroenterology Tags: Scand J Gastroenterol Source Type: research