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September 13, 2006Journal of Medical Genetics275 citationsOpen Access

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes

RVRoslyn VarkiSSSara SadowskiJUJouni Uitto

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Abstract

Examination of the mutation database suggested phenotype-genotype correlations, contributing to the improved subclassification of DEB with prognostic implications. The mutation information also forms the basis for accurate genetic counselling and prenatal diagnosis in families at risk for recurrence.

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Varki et al. (2006) studied this question.

synapsesocial.com/papers/69d7505cf182769aa8b8a3e9https://doi.org/10.1136/jmg.2006.045302
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Also Consider

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  1. 1Genotype–Phenotype Correlation in Italian Patients with Dystrophic Epidermolysis Bullosa2002 · 78 citations
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  5. 5Genetic Basis of Dominantly Inherited Transient Bullous Dermolysis of the Newborn: A Splice Site Mutation in the Type VII Collagen Gene1997 · 72 citations