Deletion of distal promoter of VCXA in a patient with X-linked ichthyosis associated with borderline mental retardation

Journal of Dermatological Science

Volumn 45, Issue 1, 2007, Pages 31-36

  Hosomi, Naoko ^a,b   Oiso, Naoki ^c,d   Fukai, Kazuyoshi ^b   Hanada, Kazushi ^d   Fujita, Hiroko ^e   Ishii, Masamitsu ^b  

^a Kashiwara Municipal Hospital   (Japan)

^b OSAKA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c Saiseikai Tondabayashi Hospital   (Japan)

^d KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e LSI MEDIENCE CORPORATION   (Japan)

Author keywords

Mental retardation; VCXA; X linked ichthyosis

Indexed keywords

STERYL SULFATASE;

ADULT; ARTICLE; CASE REPORT; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE DELETION; HUMAN; ICHTHYOSIS; MALE; MENTAL DEFICIENCY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; STEROID SULFATASE GENE; VARIABLY CHARGED X CHROMOSOME MRNA ON CRI S232A GENE;

ADULT; GENE DELETION; HUMANS; ICHTHYOSIS, X-LINKED; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MENTAL RETARDATION; NUCLEAR PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; PROMOTER REGIONS (GENETICS); SEVERITY OF ILLNESS INDEX; STERYL-SULFATASE;

EID: 33845710459     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2006.10.001     Document Type: Article

References (16)

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