First case of osteopathia striata with cranial sclerosis in an adult male with Klinefelter syndrome
Author:
Publisher
Elsevier BV
Subject
Rheumatology
Reference14 articles.
1. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis;Jenkins;Nat Genet,2009
2. WTX R353X mutation in a family with osteopathia striata and cranial sclerosis (OS–CS): case report and literature review of the disease clinical, genetic and radiological features;Zicari;Ital J Pediatr,2012
3. WTX mutations can occur both early and late in the pathogenesis of Wilms tumour;Fukuzawa;J Med Genet,2010
4. The male phenotype in osteopathia striata congenita with cranial sclerosis;Holman;Am J Med Genet A,2011
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. Intestinal malrotation in a female newborn affected by Osteopathia Striata with Cranial Sclerosis due to a de novo heterozygous nonsense mutation of the AMER1 gene;Italian Journal of Pediatrics;2022-12-29
2. Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy;Ophthalmic Genetics;2022-11-29
3. Osteopathia striata in the mandible with cranial sclerosis: a case report and review of the literature;Journal of the Korean Association of Oral and Maxillofacial Surgeons;2021-04-30
4. High bone mass in adults;Joint Bone Spine;2018-12
5. Les hyperdensités osseuses de l’adulte;Revue du Rhumatisme;2018-12
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