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Infantile Systemic Hyalinosis: Variable Grades of Severity

BACKGROUND: Infantile systemic hyalinosis (ISH) is an autosomal recessively inherited disorder. The classical natural history of the disease is characterised by hypotonia, multiple contractures, skin lesions, osteopenia, joint pain, bone fractures, persistent diarrhoea and growth deficiency. MATERIA...

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Detalles Bibliográficos
Autores principales:	Al Kaissi, Ali, Hilmi, Marwa, Betadolova, Zulfiya, Bouchoucha, Sami, Trofimova, Svetlana, Shboul, Mohammad, Rustamov, Guseyn, Dwera, Wiam, Sigl, Katharina, Kenis, Vladimir, Kircher, Susanne Gerit
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Wolters Kluwer - Medknow 2021
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8423165/ https://www.ncbi.nlm.nih.gov/pubmed/34341308 http://dx.doi.org/10.4103/ajps.AJPS_162_20

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