Deletion of the first pair of fibronectin type III repeats of the integrin β-4 gene is associated with epidermolysis bullosa, pyloric atresia and aplasia cutis congenita in the original Carmi syndrome patients

American Journal of Medical Genetics, Part A

Volumn 146, Issue 8, 2008, Pages 1063-1066

  Birnbaum, Ramon Y ^a,b   Landau, Daniella ^a   Elbedour, Khalil ^a   Ofir, Rivka ^a   Birk, Ohad S ^a   Carmi, Rivka ^a  

^a BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

^b BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA6 INTEGRIN; BETA4 INTEGRIN; FIBRONECTIN; FIBRONECTIN TYPE III; GENOMIC DNA; UNCLASSIFIED DRUG;

CARMI SYNDROME; CONSANGUINITY; CONTROLLED STUDY; DNA SEQUENCE; EPIDERMOLYSIS BULLOSA; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC DISORDER; HUMAN; HUMAN CELL; INTESTINE ATRESIA; LETTER; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PYLORUS; SKIN APLASIA; ARTICLE; CHEMISTRY; CONGENITAL MALFORMATION; ECTODERMAL DYSPLASIA; EXON; GENETICS; PEDIGREE; SYNDROME;

ECTODERMAL DYSPLASIA; EPIDERMOLYSIS BULLOSA; EXONS; FIBRONECTINS; HUMANS; INTEGRIN BETA4; PEDIGREE; PYLORUS; SEQUENCE DELETION; SYNDROME;

EID: 42949147509     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31903     Document Type: Letter

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