Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.32022/fullpdf
Reference15 articles.
1. Raine dysplasia: a Brazilian case with a mild radiological involvement
2. Further delineation of Raine syndrome
3. Intracranial calcification in Raine syndrome
4. Intracranial calcification in Raine syndrome: radiological pathological correlation
5. Clinical phenotype of desmosterolosis
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3. Mutations of family with sequence similarity 20‐member C gene causing lethal and nonlethal Raine syndrome causes hypophosphatemia rickets;Journal of Cellular Physiology;2023-09-12
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5. Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis;International Journal of Molecular Sciences;2023-05-17
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