Linkage to anonymous markers at 3p21 and COL7A1 RFLPs in 5 British families with autosomal dominant dystrophic epidermolysis bullosa associated with abnormal anchoring fibrils

1993 ◽  
Vol 6 (1) ◽  
pp. 83
Author(s):  
L. Al-Imara ◽  
A.J. Richards ◽  
R.A.J. Eady ◽  
M.G.S. Dunnill ◽  
F.M. Pope
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Dominant ◽  
Dystrophic Epidermolysis Bullosa

Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

1992 ◽  
Vol 99 (5) ◽  
pp. 528-530 ◽  
Author(s):  
Nelleke A Gruis ◽  
Jan N Bouwes Bavinck ◽  
Peter M Steijlen ◽  
Jan G Van Der Schroeff ◽  
Arie Van Haeringen ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Genetic Linkage ◽  
Autosomal Dominant ◽  
Dominant Form ◽  
Dystrophic Epidermolysis Bullosa ◽  
Autosomal Dominant Form ◽  
Col7a1 Gene ◽  
Collagen Vii

scholarly journals Intrafamilial Diversity of Clinical Severity in Dominant Dystrophic Epidermolysis Bullosa: Case Series of Three Generations

2019 ◽  
Vol 13 (1) ◽  
pp. 3-7
Author(s):  
Inne Arline Diana ◽  
Srie Prihianti Gondokaryono ◽  
Reiva Farah Dwiyana ◽  
July Iriani Rahardja ◽  
Yuri Yogya ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Case Series ◽  
Clinical Severity ◽  
Dystrophic Epidermolysis Bullosa ◽  
Tissue Separation ◽  
Three Generations ◽  
Unknown Gene ◽  
Main Observation

Background: Epidermolysis bullosa, a group of inheritable blistering diseases with considerable clinical and genetic diversity, is divided into distinct subtypes depending on the level of tissue separation in the dermal–epidermal basement membrane zone. The dystrophic form of epidermolysis bullosa (DEB) is characterized by tense blisters and erosions which heals with extensive scarring. The fact that DEB can be inherited in either autosomal dominant (DDEB) or autosomal recessive (RDEB) pattern adds to its clinical diversity. The cause of marked clinical diversity in mild to severe DDEB is still unidentified. Main Observation: We report an intrafamilial diversity of clinical severity in dominant dystrophic epidermolysis bullosa (DDEB) cases within three generations. Conclusion: We emphasize the variety of clinical severity in DDEB cases within three generations which might be caused by unknown gene modifiers and environmental factors.

scholarly journals Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.

1992 ◽  
Vol 29 (6) ◽  
pp. 381-382 ◽  
Author(s):  
L al-Imara ◽  
A J Richards ◽  
R A Eady ◽  
I M Leigh ◽  
M Farrall ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Autosomal Dominant ◽  
Dystrophic Epidermolysis Bullosa
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