Neonatal diagnosis of Kindler syndrome [1]

Journal of Dermatological Science

Volumn 39, Issue 3, 2005, Pages 183-185

  Fassihi, Hiva ^a   Wessagowit, Vesarat ^a   Jones, Catherine ^a   Dopping Hepenstal, Patricia ^a   Denyer, Jackie ^b   Mellerio, Jemima E ^a,b   Clark, Sheila ^c   McGrath, John A ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^c LEEDS GENERAL INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

KINDLIN 1; PROTEIN; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; FRAMESHIFT MUTATION; GENE MUTATION; GENODERMATOSIS; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOHISTOCHEMISTRY; KINDLER SYNDROME; LETTER; MALE; NEWBORN; NEWBORN DISEASE; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SKIN BIOPSY; SKIN DISEASE;

ALTERNATIVE SPLICING; EXONS; EXTRACELLULAR MATRIX PROTEINS; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; INTRONS; MALE; MEMBRANE PROTEINS; NEOPLASM PROTEINS; PHOTOSENSITIVITY DISORDERS; ROTHMUND-THOMSON SYNDROME; SYNDROME;

EID: 24044528190     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2005.05.007     Document Type: Letter

References (9)

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