Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients
Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients
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United States: Public Library of Science
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Language
English
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United States: Public Library of Science
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Hirschsprung disease (HSCR, OMIM 142623) is a developmental disorder characterized by the absence of ganglion cells along variable lengths of the distal gastrointestinal tract, which results in tonic contraction of the aganglionic gut segment and functional intestinal obstruction. The RET proto-oncogene is the major gene for HSCR with differential...
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Full title
Comprehensive Analysis of NRG1 Common and Rare Variants in Hirschsprung Patients
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TN_cdi_plos_journals_1324609980
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1324609980
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0036524
