Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference12 articles.
1. Mutations in gene encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome;Dauwerse;Nature Genet,2011
2. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients;Vincent;Genet Med,2016
3. Facial dysostoses: etiology, pathogenesis and management;Trainor;Am J Med Genet C Semin Med Genet,2013
4. Treacher Collins syndrome: a systematic review of evidence-based treatment and recommendations;Herlin;Plast Reconstr Surg,2016
5. Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1;Horiuchi;Am J Med Genet A,2004
Cited by 5 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Two novel pathogenic variants in the TCOF1 found in two Chinese cases of Treacher Collins syndrome;Molecular Genetics & Genomic Medicine;2024-03
2. Associated Systemic Health Conditions Associated with Treacher Collins Syndrome;Craniofacial Microsomia and Treacher Collins Syndrome;2022
3. Pediatric Intestinal Pseudo-Obstruction;Pediatric Neurogastroenterology;2022
4. Etiology and Management of Pediatric Intestinal Failure: Focus on the Non-Digestive Causes;Nutrients;2021-02-27
5. Treacher Collins syndrome with a novel deletion in the TCOF1 gene;Erciyes Medical Journal;2019
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