Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history

Human Mutation

Volumn 32, Issue 11, 2011, Pages 1204-1212

  Has, Cristina ^a   Castiglia, Daniele ^b   del Rio, Marcela ^c   Garcia Diez, Marta ^c   Piccinni, Eugenia ^b   Kiritsi, Dimitra ^a   Kohlhase, Jürgen ^d   Itin, Peter ^e   Martin, Ludovic ^f   Fischer, Judith ^a   Zambruno, Giovanna ^b   Bruckner Tuderman, Leena ^a,d  

^a UNIVERSITY OF FREIBURG   (Germany)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^c CIEMAT   (Spain)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY HOSPITAL BASEL   (Switzerland)

^f ANGERS UNIVERSITY HOSPITAL   (France)

Author keywords

Blister; Epidermolysis bullosa; Fermitin; FERMT1; Kindlin; Poikiloderma

Indexed keywords

ADAPTOR PROTEIN; BETA INTEGRIN; CELL PROTEIN; GENE PRODUCT; KINDLIN 1; PROTEIN FERMT1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLISTER; CANCER RISK; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; ENVIRONMENTAL FACTOR; EPIDERMOLYSIS BULLOSA; FEMALE; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENETIC CODE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; KINDLER SYNDROME; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PATHOGENESIS; POIKILODERMA; PRESCHOOL CHILD; PRIORITY JOURNAL; RNA TRANSLATION; SCHOOL CHILD; SKIN DISEASE; SKIN MANIFESTATION;

ADOLESCENT; ADULT; BLISTER; CHILD; CHILD, PRESCHOOL; EPIDERMOLYSIS BULLOSA; GENETIC ASSOCIATION STUDIES; HUMANS; MEMBRANE PROTEINS; MUTATION; MUTATION, MISSENSE; NEOPLASM PROTEINS; PERIODONTAL DISEASES; PHENOTYPE; PHOTOSENSITIVITY DISORDERS;

EID: 80054703593     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21576     Document Type: Article

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