Segmental Stiff Skin Syndrome: A Rare Case Report from Indonesia
Berkala Ilmu Kesehatan Kulit dan Kelamin (Periodical of Dermatology and Venerology)Background: This paper reports a segmental Stiff Skin Syndrome (SSS) case in a four-year-old girl. SSS is a rare disease characterized by skin hardening and joint stiffness due to a mutation of the fibrillin-1 (FBN-1) gene encoding the fibrillin protein.
Hafidzah Nurmastuti +5 more
doaj +1 more source
G/A polymorphism in an intron of the fibrillin gene FBNI [PDF]
, 1991 D. Hewett +3 more
openalex +1 more source
Fibrillin degradation by matrix metalloproteinases: implications for connective tissue remodelling [PDF]
, 1999 Jane Ashworth +6 more
openalex +1 more source
Microfibril-associated Glycoprotein-2 (MAGP-2) Is Specifically Associated with Fibrillin-containing Microfibrils but Exhibits More Restricted Patterns of Tissue Localization and Developmental Expression Than Its Structural Relative MAGP-1 [PDF]
, 1998 Mark A. Gibson +3 more
openalex +1 more source
Aortic aneurysm and non-Hodgkin’s lymphoma in Marfan syndrome [PDF]
, 2009 The combination of Marfan syndrome with lymphoma is extremely rare. This report describes a case of Marfan syndrome who presented with chest discomfort and was diagnosed to have an aortic aneurysm and an additional incidental mediastinal mass that on ...
Sandip Kumar Ghosh +2 more
core
Structure of the Mutant Fibrillin-1 Gene in the Tight Skin (TSK) Mouse [PDF]
, 1997 C Bona
openalex +1 more source
Role of the Latent Transforming Growth Factor β–Binding Protein 1 in Fibrillin-Containing Microfibrils in Bone Cells In Vitro and In Vivo [PDF]
, 2000 Sarah L. Dallas +6 more
openalex +1 more source
The Microfibrillar Proteins MAGP-1 and Fibrillin-1 Form a Ternary Complex with the Chondroitin Sulfate Proteoglycan Decorin [PDF]
, 2000 Barbara Crippes Trask +3 more
openalex +1 more source
Mutations in Calcium-binding Epidermal Growth Factor Modules Render Fibrillin-1 Susceptible to Proteolysis [PDF]
, 2000 Dieter P. Reinhardt +5 more
openalex +1 more source
Induction of Skin Fibrosis in Mice Expressing a Mutated Fibrillin-1 Gene [PDF]
, 2000 Shinichiro Saito +6 more
openalex +1 more source