Mosaicism in Osteopathia Striata with Cranial Sclerosis
Author:
Affiliation:
1. Departments of Medicine (D.J.J., S.I., M.J.E.), Indiana University School of Medicine, Indianapolis, Indiana 46202
2. Medical and Molecular Genetics (M.J.E.), Indiana University School of Medicine, Indianapolis, Indiana 46202
Publisher
The Endocrine Society
Subject
Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism
Link
http://academic.oup.com/jcem/article-pdf/95/4/1506/10780338/jcem1506.pdf
Reference8 articles.
1. Osteopathia striata with cranial sclerosis: literature reappraisal argues for X-linked inheritance;Behninger;Genet Couns,2000
2. Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis;Jenkins;Nat Genet,2009
3. Clinical vignette: osteopathia striata with cranial sclerosis;Lazar;J Bone Miner Res,1999
4. An X chromosome gene, WTX, is commonly inactivated in Wilms tumor;Rivera;Science,2007
5. Osteopathia striata with cranial sclerosis due to WTX gene defect;Perdu;J Bone Miner Res,2009
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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
2. Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass;JBMR Plus;2022-07-05
3. The phenotypic spectrum of AMER1 ‐related osteopathia striata with cranial sclerosis: The first Canadian cohort;American Journal of Medical Genetics Part A;2021-08-20
4. Whole Exome Sequencing Provides the Correct Diagnosis in a Case of Osteopathia Striata with Cranial Sclerosis: Case Report of a Novel Frameshift Mutation in AMER1;Journal of Pediatric Genetics;2020-04-21
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