A review of genetic mutation in familial Hirschsprung's disease in South Africa: towards genetic counseling
Author:
Publisher
Elsevier BV
Subject
General Medicine,Pediatrics, Perinatology and Child Health,Surgery
Reference29 articles.
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2. Hirschsprung disease: a genetic study;Garver;Clin Genet,1985
3. The genetics of Hirschsprungs disease;Passarge;N Engl J Med,1967
4. Familial aspects of Hirschsprungs disease;Moore;Eur J Pediat Surg,1991
5. Hirschsprung disease, associated syndromes, and genetics: a review;Amiel;J Med Genet,2001
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1. Comprehensive characterization of the genetic landscape of familial Hirschsprung’s disease;World Journal of Pediatrics;2023-03-01
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3. Familial Experience With Hirschsprung's Disease Improves the Patient's Ability to Cope;Frontiers in Pediatrics;2022-03-07
4. Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development;PLOS Genetics;2021-08-06
5. Novel Causative RET Mutation in a Japanese Family with Hirschsprung's Disease: Case Report and Factors Impacting Disease Severity;Journal of Pediatric Genetics;2020-10-05
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