Severe malformations in males from families with osteopathia striata with cranial sclerosis
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1998.tb03753.x/fullpdf
Reference13 articles.
1. Osteopathia striata - Voorhoeve's disease;Hurt;J Bone Joint Surg,1953
2. Osteopathia striata with cranial sclerosis: highly variable phenotypic expression within a family;Savarirayan;Clin Genet,1997
3. Osteopathia striata with cranial sclerosis: variable expressivity in a four generation pedigree;König;Am J Med Genet,1996
4. Osteopathia striata with cranial sclerosis. An autosomal dominant entity;Horan;Clin Genet,1978
5. Osteopathia striata with cranial sclerosis: highly variable expression within a family including cleft palate in two neonatal cases;Winter;Clin Genet,1980
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1. 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
2. Germline mosaicism in osteopathia striata with cranial sclerosis – recurrence in siblings;Clinical Dysmorphology;2016-04
3. Osteopathia striata with cranial sclerosis, Wilms’ tumor and theWTXgene;World Journal of Medical Genetics;2014
4. Severe osteopathia striata with cranial sclerosis in a female case with wholeWTXgene deletion;American Journal of Medical Genetics Part A;2013-02-07
5. Ostéochondrodysplasies;Imagerie Musculosquelettique : Pathologies Générales;2013
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