Pre-descemet corneal dystrophy and x-linked ichthyosis associated with deletion of Xp22.31 containing the STS gene

Cornea

Volumn 32, Issue 9, 2013, Pages 1283-1287

  Hung, Crystal ^a   Ayabe, Reed I ^a   Wang, Cynthia ^a   Frausto, Ricardo F ^a   Aldave, Anthony J ^a  

^a JULES STEIN EYE INSTITUTE   (United States)

Author keywords

ichthyosis; pre Descemet corneal dystrophy; steroid sulfatase deficiency; STS

Indexed keywords

GENOMIC DNA;

ADULT; AMPLICON; ARTICLE; CASE REPORT; CELL DENSITY; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; CORNEA DYSTROPHY; CORNEA ENDOTHELIUM; CORNEA OPACITY; CORNEA STROMA; ENDOTHELIUM CELL; EXON; EYE EXAMINATION; GENE DELETION; HUMAN; ICHTHYOSIS; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PSEUDOGENE; SLIT LAMP; VISUAL ACUITY; X LINKED ICHTHYOSIS;

CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; CORNEAL DYSTROPHIES, HEREDITARY; DESCEMET MEMBRANE; DNA COPY NUMBER VARIATIONS; HUMANS; ICHTHYOSIS, X-LINKED; MALE; MIDDLE AGED; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE DELETION; STERYL-SULFATASE;

EID: 84883310229     PISSN: 02773740     EISSN: 15364798     Source Type: Journal    
DOI: 10.1097/ICO.0b013e318298e176     Document Type: Article

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