Neonatal osteosclerotic bone dysplasia (Raine syndrome)
Background: Raine syndrome is a rare autosomal recessive neonatal osteosclerotic bone dysplasia caused due to mutations in the FAM20C gene. It has an early and aggressive onset which often results in death in the first few weeks of life, although there have been cases of patients surviving into chil...
| Autors principals: | , , , |
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| Format: | Article |
| Idioma: | English |
| Publicat: |
Wolters Kluwer Medknow Publications
2021-01-01
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| Col·lecció: | Indian Pediatrics Case Reports |
| Matèries: | |
| Accés en línia: | http://www.ipcares.org/article.asp?issn=2772-5170;year=2021;volume=1;issue=4;spage=244;epage=246;aulast=Girigiri |