Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: Expansion of the mutation database and unusual phenotype-genotype correlations

Journal of Dermatological Science

Volumn 56, Issue 1, 2009, Pages 9-18

  van den Akker, Peter C ^a   van Essen, Anthonie J ^a   Kraak, Marian M J ^a   Meijer, Rowdy ^b   Nijenhuis, Miranda ^a   Meijer, Gonnie ^a   Hofstra, Robert M W ^a   Pas, Hendri H ^a   Scheffer, Hans ^b   Jonkman, Marcel F ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

COL7A1; Mechanobullous skin disease; Phenotype genotype correlations; Recessive dystrophic epidermolysis bullosa; Type VII collagen

Indexed keywords

COLLAGEN TYPE 7;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA DYSTROPHICA; ESOPHAGUS DISEASE; FAMILY STUDY; FLEXION CONTRACTURE; GENE MUTATION; GENETIC DATABASE; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INFANT; NETHERLANDS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGNOSIS; SKIN ATROPHY; SYNDACTYLY;

ADOLESCENT; ADULT; AGED; CHILD; CHILD, PRESCHOOL; COLLAGEN TYPE VII; EPIDERMOLYSIS BULLOSA DYSTROPHICA; EXONS; FEMALE; FOLLOW-UP STUDIES; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MUTATION; NETHERLANDS; PEDIGREE; PHENOTYPE; SKIN; YOUNG ADULT;

EID: 69049111617     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2009.06.015     Document Type: Article

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