Article

Exome sequencing identified a novel pathogenic RET variant with high variable expressivity and incomplete penetrance in an extended pedigree with Hirschsprung disease

2020-04-06

Abstract excerpt

<h4>Background: </h4> Hirschsprung disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the gastrointestinal tract, which consequences in intestinal obstruction. HSCR has more than 80% heritability, including two major forms as sporadically which is the most common form with a complex pattern of inheritance and other forms appear with a familial/syndromic basis along with Me...

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Literature Corpus work: a7db3c59-9eaf-587c-ad66-49765a3a9576
DOI: 10.21203/rs.3.rs-20722/v1

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