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...

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Detalles Bibliográficos
Autores principales: Jeong, Changhoon, Kim, Myungshin, Yim, Jisook, Park, Il-Jung, Lee, Jiwon, Lee, Jaeyoung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
3500
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

Internet

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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