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Infantile systemic hyalinosis: Report of two severe cases from Saudi Arabia and review of the literature
Infantile systemic hyalinosis (ISH) (OMIM 228600) is a rare fatal autosomal recessive disorder characterized by extensive deposition of hyaline material in many tissues. Consanguinity has been recorded in many cases. Herein we present two new Saudi cases with review of the literature. Our first prob...
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| Publicado no: | Intractable Rare Dis Res |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
International Research and Cooperation Association for Bio & Socio-Sciences Advancement
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4869580/ https://ncbi.nlm.nih.gov/pubmed/27195198 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5582/irdr.2016.01003 |
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