Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations

Ophthalmology

Volumn 119, Issue 1, 2012, Pages 74-83

  Di Iorio, Enzo ^a   Kaye, Stephen B ^b   Ponzin, Diego ^a   Barbaro, Vanessa ^a   Ferrari, Stefano ^a   Böhm, Elisabetta ^c   Nardiello, Paola ^d,e   Castaldo, Giuseppe ^d,e   McGrath, John A ^f   Willoughby, Colin E ^g  

^a The Veneto Eye Bank Foundation   (Italy)

^b ROYAL LIVERPOOL UNIVERSITY HOSPITAL   (United Kingdom)

^c OSPEDALE DELL'ANGELO   (Italy)

^d CEINGE BIOTECNOLOGIE AVANZATE   (Italy)

^e UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^f KING'S COLLEGE LONDON   (United Kingdom)

^g QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P63;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA CONJUNCTIVALIZATION; CORNEA DISEASE; DISEASE SEVERITY; DNA BINDING; DNA SEQUENCE; EEC SYNDROME; EYE EXAMINATION; GENE MUTATION; HETEROZYGOTE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; IMPRESSION CYTOLOGY; IRELAND; ITALY; KERATOPATHY; LIMBAL STEM CELL DEFICIENCY; LIMBAL STEM CELL TRANSPLANTATION; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PANNUS; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; RETROSPECTIVE STUDY; SCHOOL CHILD; SLIT LAMP; SNELLEN TEST; TEAR BREAKUP TIME; TEAR FLOW; TEAR FUNCTION INDEX; UNITED KINGDOM; VISUAL ACUITY; VISUAL IMPAIRMENT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CLEFT LIP; CLEFT PALATE; CORNEAL DISEASES; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; EPITHELIAL CELLS; EPITHELIUM, CORNEAL; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; HUMANS; KERATOPLASTY, PENETRATING; LIMBUS CORNEAE; MALE; MIDDLE AGED; MUTATION, MISSENSE; PHENOTYPE; POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDIES; STEM CELLS; TRANSCRIPTION FACTORS; TUMOR SUPPRESSOR PROTEINS; VISION DISORDERS; VISUAL ACUITY;

EID: 84555161203     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2011.06.044     Document Type: Article

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