- Tytuł:
- Bruch's membrane abnormalities in PRDM5-related brittle cornea syndrome.
- Autorzy:
- Źródło:
- Orphanet journal of rare diseases [Orphanet J Rare Dis] 2015 Nov 11; Vol. 10, pp. 145. Date of Electronic Publication: 2015 Nov 11.
- Typ publikacji:
- Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Bruch Membrane/*metabolism
Bruch Membrane/*pathology
DNA-Binding Proteins/*biosynthesis
Eye Abnormalities/*diagnosis
Eye Abnormalities/*metabolism
Joint Instability/*congenital
Skin Abnormalities/*diagnosis
Skin Abnormalities/*metabolism
Transcription Factors/*biosynthesis
Adolescent ; Adult ; Aged ; Amino Acid Sequence ; Cells, Cultured ; Child ; DNA-Binding Proteins/genetics ; Eye Abnormalities/genetics ; Female ; Fibroblasts/metabolism ; Fibroblasts/pathology ; Humans ; Joint Instability/diagnosis ; Joint Instability/genetics ; Joint Instability/metabolism ; Male ; Middle Aged ; Molecular Sequence Data ; Skin Abnormalities/genetics ; Transcription Factors/genetics ; Young Adult - SCR Disease Name:
- Brittle cornea syndrome 1
Czasopismo naukowe