Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene

Australasian Journal of Dermatology

Volumn 53, Issue 1, 2012, Pages 61-65

  Boyce, Aaron E ^a   McGrath, John A ^b   Techanukul, Tanasit ^b   Murrell, Dédée F ^c   Chow, Chung Wo ^d   McGregor, Lesley ^e   Warren, Lachlan J ^e  

^a PETER MACCALLUM CANCER CENTRE   (Australia)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY OF NEW SOUTH WALES   (Australia)

^d ROYAL CHILDREN'S HOSPITAL   (Australia)

^e WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

desmosomal genodermatosis; desmosome; ectodermal dysplasia skin fragility syndrome; epidermolysis bullosa simplex; McGrath syndrome; plakophilin 1

Indexed keywords

GENOMIC DNA; PLAKOPHILIN; PLAKOPHILIN 1; UNCLASSIFIED DRUG;

ACANTHOLYSIS; ARTICLE; BASE PAIRING; CASE REPORT; CESAREAN SECTION; CHILD; CODON; CONSANGUINEOUS MARRIAGE; ECTODERMAL DYSPLASIA; EPIDERMIS HYPERPLASIA; ERYTHEMA; EXON; EYEBROW; EYELASH; FETUS DISTRESS; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; GENODERMATOSIS; HUMAN; IMMUNOFLUORESCENCE; IMMUNOREACTIVITY; INGUINAL HERNIA; KERATINOCYTE; MEDICAL HISTORY; NAIL DYSTROPHY; PRESCHOOL CHILD; SCALP HAIR; SKIN ABRASION; SKIN BIOPSY; SKIN FRAGILITY; TOOTH DEVELOPMENT; TRANSMISSION ELECTRON MICROSCOPY;

BASE SEQUENCE; ECTODERMAL DYSPLASIA; FEMALE; HOMOZYGOTE; HUMANS; INFANT; PLAKOPHILINS; SEQUENCE DELETION; SKIN DISEASES;

EID: 84856955673     PISSN: 00048380     EISSN: 14400960     Source Type: Journal    
DOI: 10.1111/j.1440-0960.2011.00846.x     Document Type: Article

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