Hypoplastic nails and brachydactyly in a girl with moderate acne and hirsutism
Author:
Affiliation:
1. Section of Dermatology Department of Clinical and Experimental Medicine University of Messina Messina Italy
2. Section of Internal Medicine Department of Clinical and Experimental Medicine University of Messina Messina Italy
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology and Child Health
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14700
Reference10 articles.
1. Molecular and cellular pathogenesis of Ellis‐van Creveld syndrome: lessons from targeted and natural mutations in animal models;Louie KW;J Dev Biol,2020
2. Sequencing EVC and EVC2 identifies mutations in two‐thirds of Ellis‐van Creveld syndrome patients;Tompson SW;Hum Genet,2007
3. Novel and recurrent EVC and EVC2 mutations in Ellis‐van Creveld syndrome and Weyers acrofacial dyostosis;D'Asdia MC;Eur J Med Genet,2013
4. Novel mutation in EFCAB7 alters expression and interaction of Ellis‐van Creveld ciliary proteins;Nguyen TQN;Congenit Anom (Kyoto),2019
5. Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome;Niceta M;Clin Genet,2018
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