Associated Papers
Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies.
Ye Y et al.
Frontiers in Medicine, 2025
Neonatal epidermolysis bullosa: lessons to learn about genetic counseling.
Chong SC et al.
The Journal of Dermatological Treatment, 2021
From Clinical Phenotype to Genotypic Modelling: Incidence and Prevalence of Recessive Dystrophic Epidermolysis Bullosa (RDEB).
Eichstadt S et al.
Clinical, Cosmetic and Investigational Dermatology, 2019
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
van den Akker PC et al.
Journal of Dermatological Science, 2009
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Varki R et al.
Journal of Medical Genetics, 2007
Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.
Fassihi H et al.
The Journal of Investigative Dermatology, 2006
Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.
Posteraro P et al.
Biochemical and Biophysical Research Communications, 2005
Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
Gardella R et al.
The Journal of Investigative Dermatology, 2002
Different phenotypes in recessive dystrophic epidermolysis bullosa patients sharing the same mutation in compound heterozygosity with two novel mutations in the type VII collagen gene.
Gardella R et al.
The British Journal of Dermatology, 2002
[Dystrophic epidermolysis bullosa].
Gol'dshteĭn LM et al.
Vestnik Dermatologii I Venerologii, 1976
Generalised recessive dystrophic epidermolysis bullosa in two sisters.
Grover S
Indian Journal of Dermatology, Venereology and Leprology, 0
Phenytoin therapy in recessive dystrophic epidermolysis bullosa.
Rege VL
Indian Journal of Dermatology, Venereology and Leprology, 0
Recessive Dystrophic Epidermolysis Bullosa with Congenital Cataract.
Sharmughan Pillai SM et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
Purified oral cannabidiol for pain management in severe recessive dystrophic epidermolysis bullosa.
Welponer T et al.
Indian Journal of Dermatology, Venereology and Leprology, 0