Intronic RET gene variants in Down syndrome–associated Hirschsprung disease in an African population
Author:
Publisher
Elsevier BV
Subject
General Medicine,Pediatrics, Perinatology and Child Health,Surgery
Reference27 articles.
1. Hirschsprung disease, associated syndromes and genetics: a review;Amiel;J Med Genet,2008
2. Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease;Angrist;Hum Mol Genet,1995
3. Frequency of RET mutations in long and short-segment Hirschsprung disease;Seri;Hum Mutat,1997
4. RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems;Hofstra;Hum Mutat,2000
5. Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2;Burzynski;Eur J Hum Genet,2004
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4. Loss-of-function mutation of c-Ret causes cerebellar hypoplasia in mice with Hirschsprung disease and Down's syndrome;Journal of Biological Chemistry;2021-01
5. Symptom;Hirschsprung’s Disease and the Allied Disorders;2019
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