Stüve-Wiedemann syndrome with a novel mutation in a Saudi infant
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology, and Child Health
Reference11 articles.
1. Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology;Mikelonis;Orphanet J Rare Dis,2014
2. Case report of prenatal diagnosis of Stüve-Wiedemann Syndrome in a woman with another child affected too;Catavorello;J Prenat Med,2013
3. Null leukemia inhibitory factor receptor (LIFR) mutations in Stüve-Wiedemann/Schwartz-Jampel type 2 syndrome;Dagoneau;Am J Hum Genet,2004
4. Characterization of a long-term survivor with Stüve-Wiedemann syndrome and mosaicism of a supernumerary marker chromosome;Chen;Am J Med Genet,2001
5. Birth prevalence and pattern of osteochondrodysplasias in an inbred high risk population;Al-Gazali;Birth Defects Res A Clin Mol Teratol,2003
Cited by 2 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. Mutations in LIFR rewire the JAK/STAT signaling pathway: A study unveiling mechanistic details of Stüve-Wiedemann syndrome;Computers in Biology and Medicine;2024-09
2. Genetic counselling considerations with genetic/genomic testing in Neonatal and Pediatric Intensive Care Units: A scoping review;Clinical Genetics;2023-11-06
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