Cargando…
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...
Autores principales: | , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
|
Materias: | |
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 |