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Pierpont syndrome‐Report of a new patient

  • Published:2021-02-18 Issue:4 Volume:9 Page:2113-2116
  • ISSN:2050-0904
  • Container-title:Clinical Case Reports
  • language:en
  • Short-container-title:Clin Case Rep

Author:

Ismaili–Jaha Vlora1ORCID,Spahiu‐Konusha Shqipe2,Jaha Art3

Affiliation:

1. Department of Pediatric Gastroenterology Faculty of Medical Sciences University of Prishtina Prishtina Albania

2. Department of Genetics Faculty of Medical Sciences University of Prishtina Prishtina Albania

3. Faculty of Medical Sciences University of Prishtina Prishtina Albania

Publisher

Wiley

Subject

General Medicine

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. The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects;Orphanet Journal of Rare Diseases;2024-02-20

2. Novel Arthrogryposis Multiplex Congenita Presentation in a Newborn With Pierpont Syndrome;Journal of Investigative Medicine High Impact Case Reports;2023-01

3. Rare variant of TBL1XR1 in West syndrome: A case report;Molecular Genetics & Genomic Medicine;2022-05-25

4. An animal model for Pierpont syndrome: a mouse bearing the Tbl1xr1 Y446C/Y446C mutation;Human Molecular Genetics;2022-04-13

5. Pierpont syndrome‐Report of a new patient;Clinical Case Reports;2021-02-18
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