Literature DB >> 29493586

Do RET somatic mutations play a role in Hirschsprung disease?

Erwin Brosens1, Katherine C MacKenzie1, Maria M Alves1, Robert M W Hofstra2.   

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Year:  2018        PMID： 29493586     DOI： 10.1038/gim.2018.6

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  3 in total

Review 1.  Advances in understanding the association between Down syndrome and Hirschsprung disease (DS-HSCR).

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2018-09-14       Impact factor: 1.827

2.  Is There Any Mosaicism in REarranged During Transfection Variant in Hirschsprung Disease's Patients?

Authors:  Kristy Iskandar; Susan Simanjaya; Taufik Indrawan; Alvin Santoso Kalim; Didik Setyo Heriyanto
Journal:  Front Pediatr       Date:  2022-03-10       Impact factor: 3.418

3.  The Somatic Mutation Paradigm in Congenital Malformations: Hirschsprung Disease as a Model.

Authors:  Katherine C MacKenzie; Rhiana Garritsen; Rajendra K Chauhan; Yunia Sribudiani; Bianca M de Graaf; Tim Rugenbrink; Rutger Brouwer; Wilfred F J van Ijcken; Ivo de Blaauw; Alice S Brooks; Cornelius E J Sloots; Conny J H M Meeuwsen; René M Wijnen; Donald F Newgreen; Alan J Burns; Robert M W Hofstra; Maria M Alves; Erwin Brosens
Journal:  Int J Mol Sci       Date:  2021-11-16       Impact factor: 5.923
  3 in total

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