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Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report
Rationale: Osteopathia striata with cranial sclerosis is characterized by linear striations in the metaphysis of the long bones and pelvis with cranial sclerosis. It is an X-linked dominant sclerosing bone dysplasia and affected males show fetal or neonatal lethality. Mutations in the gene encoding...
Autores principales: | Jeong, Changhoon, Kim, Myungshin, Yim, Jisook, Park, Il-Jung, Lee, Jiwon, Lee, Jaeyoung |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8500662/ https://www.ncbi.nlm.nih.gov/pubmed/34622833 http://dx.doi.org/10.1097/MD.0000000000027346 |
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