Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference8 articles.
1. A case study of a preadolescent with osteopathia striata with cranial sclerosis;Ng;J Pediatr Health Care,2017
2. Prenatal diagnosis of osteopathia striata with cranial sclerosis;Vasiljevic;Prenat Diagn,2015
3. Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis;Enomoto;Congenit Anom (Kyoto),2018
4. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis;Jenkins;Nat Genet,2009
5. A novel WTX mutation in a female patient with osteopathia striata with cranial sclerosis and hepatoblastoma;Fujita;Am J Med Genet A,2014
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1. A Mosaic Variant in CTNNB1/β-catenin as a Novel Cause for Osteopathia Striata With Cranial Sclerosis;The Journal of Clinical Endocrinology & Metabolism;2024-01-04
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