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Hyaline fibromatosis syndrome with mutation c.1074delT of the CMG2 gene: a case report

INTRODUCTION: Juvenile hyaline fibromatosis and infantile systemic hyalinosis are variants of the same autosomal recessive syndrome; hyaline fibromatosis syndrome, characterized by papulonodular skin lesions, gingival hypertrophy, flexion contractures of joints, osteolytic bone lesions and stunted g...

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Detalles Bibliográficos
Autores principales:	Cherkaoui Jaouad, Imane, Guaoua, Soukaina, Hajjioui, Aicha, Sefiani, Abdelaziz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2014
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4158768/ https://www.ncbi.nlm.nih.gov/pubmed/25186005 http://dx.doi.org/10.1186/1752-1947-8-291

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