Skin fragility and hypohidrotic ectodermal dysplasia resulting from ablation of plakophilin 1

British Journal of Dermatology

Volumn 140, Issue 2, 1999, Pages 297-307

  McGrath, J A ^a   Hoeger, P H ^b   Christiano, A M ^c   McMillan, J R ^a   Mellerio, J E ^a   Ashton, G H S ^a   Dopping Hepenstal, P J C ^a   Lake, B D ^b   Leigh, I M ^d   Harper, J I ^b   Eady, R A J ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c College of Physicians and Surgeons ^*  (United States)

^d ST BARTHOLOMEW S HOSPITAL   (United Kingdom)

Author keywords

Autosomal recessive; Congenital ectodermal dysplasia; Desmosomes; Inherited skin disorder; Keratin filament cytoskeleton; Plakophilin 1; Skin fragility

Indexed keywords

CELL ADHESION MOLECULE; KERATIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CELL ADHESION; CYTOSKELETON; DESMOSOME; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOHIDROTIC ECTODERMAL DYSPLASIA; IMMUNOHISTOCHEMISTRY; KNOCKOUT GENE; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SKIN BIOPSY;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; HUMANS; HYPOHIDROSIS; MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PLAKOPHILINS; PROTEINS; SKIN DISEASES;

EID: 0032988426     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.1999.02667.x     Document Type: Article

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