Literature DB >> 26595603

Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation.

S Turczynski1,2,3, M Titeux1,2,3, N Pironon1,2,3, H I Cohn4, D F Murrell4, A Hovnanian1,2,3,5.   

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Year:  2016        PMID： 26595603     DOI： 10.1111/bjd.14312

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  3 in total

1.  Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.

Authors:  C Has; L Liu; M C Bolling; A V Charlesworth; M El Hachem; M J Escámez; I Fuentes; S Büchel; R Hiremagalore; G Pohla-Gubo; P C van den Akker; K Wertheim-Tysarowska; G Zambruno
Journal:  Br J Dermatol       Date:  2019-08-09       Impact factor: 9.302

Review 2.  Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.

Authors:  Monica-Cristina Pânzaru; Lavinia Caba; Laura Florea; Elena Emanuela Braha; Eusebiu Vlad Gorduza
Journal:  Diagnostics (Basel)       Date:  2022-05-27

Review 3.  Clinical Perspectives of Gene-Targeted Therapies for Epidermolysis Bullosa.

Authors:  Tobias Welponer; Christine Prodinger; Josefina Pinon-Hofbauer; Arno Hintersteininger; Hannelore Breitenbach-Koller; Johann W Bauer; Martin Laimer
Journal:  Dermatol Ther (Heidelb)       Date:  2021-06-10
  3 in total

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