Fatal gastrointestinal complications in <scp>Pitt‐Hopkins</scp> syndrome-Reference-Cited by-同舟云学术

Fatal gastrointestinal complications in Pitt‐Hopkins syndrome

Published:2022-12-13 Issue:3 Volume:191 Page:855-858
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Koppen Ilan J. N.¹^ORCID,Menke Leonie A.²,Westra Wytske M.³⁴,Struik Femke⁵,Mesman Simone⁶,van Wijk Michiel P.⁷,Huisman Sylvia A.²⁸

Affiliation:

1. Department of Pediatric Gastroenterology and Nutrition Emma Children's Hospital, Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

2. Department of Pediatrics Emma Children's Hospital, Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

3. Department of Gastroenterology and Hepatology Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

4. Department of Gastroenterology and Hepatology Meander Medisch Centrum Amersfoort The Netherlands

5. Department of Radiology and Nuclear Medicine Amsterdam UMC, University of Amsterdam Amsterdam The Netherlands

6. Swammerdam Institute for Life Sciences FNWI, University of Amsterdam Amsterdam The Netherlands

7. Department of Pediatric Gastroenterology and Nutrition Emma Children's Hospital, Amsterdam UMC, Vrije Universiteit Amsterdam Amsterdam The Netherlands

8. Zodiak, Prinsenstichting Purmerend The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63079

Reference12 articles.

1. Colonic Volvulus in Children With Intestinal Motility Disorders

2. Colon perforation due to pathologic aerophagia in an intellectually disabled child

3. Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

4. Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series

5. Pitt-Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo

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. DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants;Human Genetics and Genomics Advances;2024-07

2. Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations;BMC Oral Health;2024-05-22

3. From Genotype to Phenotype of Polish Patients with Pitt–Hopkins Syndrome concerning the Quality of Life and Family Functioning;Journal of Clinical Medicine;2024-04-29

4. Complex visceral hyperalgesia in an adolescent with Pitt-Hopkins syndrome;BMJ Case Reports;2024-02

5. Unusual Inconsolable Crying: An Insight, Case Report, and Review of the Literature on the Pitt-Hopkins Gastrointestinal Phenotype;Cureus;2023-08-20