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A Severe Case of Infantile Systemic Hyalinosis in an Asian Child: A Product of Consanguinity
Infantile systemic hyalinosis (ISH) is a rare, autosomal recessive disorder characterized by widespread abnormal growth of hyalinized fibrous tissue in skin and mucosae. The typical clinical picture consists of the development of joint contractures, skin lesions, and severe, chronic pain. We report...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8365122/ https://www.ncbi.nlm.nih.gov/pubmed/34414050 http://dx.doi.org/10.7759/cureus.16433 |