Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome – A case series from the West Midlands, UK-Reference-Cited by-同舟云学术

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Paediatric survivors beyond infancy with Stüve-Wiedemann syndrome – A case series from the West Midlands, UK

Published:2023-08 Issue:8 Volume:66 Page:104788
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

McDermott Helen^ORCID,Simmonds Jennifer,Thyagarajan Manigandan,Islam Lily,Naik Swati,Titheradge Hannah

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference19 articles.

1. Stüve-Wiedemann syndrome in children surviving infancy: clinical and radiological features;Al-Gazali;Clin. Dysmorphol.,2003

2. Long-term follow-up in Stuve-Wiedemann syndrome: a case report with articular involvement;Buonuomo;Clin. Dysmorphol.,2014

3. Characterization of a long-term survivor with Stuve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome;Chen;Am. J. Med. Genet.,2001

4. Abnormal oral-pharyngeal swallowing as cause of morbidity and early death in Stüve-Wiedemann syndrome;Corona-Rivera;Eur. J. Med. Genet.,2009

5. Null leukemia inhibitory factor receptor variants in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome;Dagoneau;Am. J. Hum. Genet.,2004

Cited by 1 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. A novel termination site in a case of Stüve–Wiedemann syndrome: case report and review of literature;Frontiers in Pediatrics;2024-04-02

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