Photosensitivity in the Smith-Lemli-Opitz syndrome: The US experience of a new congenital photosensitivity syndrome

Journal of the American Academy of Dermatology

Volumn 41, Issue 1, 1999, Pages 121-123

  Anstey, A V ^a   Taylor, C R ^a  

^a UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

7 DEHYDROCHOLESTEROL; CHOLESTEROL; OXIDOREDUCTASE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHOLESTEROL DIET; CLINICAL ARTICLE; ENZYME DEFICIENCY; HUMAN; INFANT; MENTAL DEFICIENCY; ONSET AGE; PHOTOSENSITIVITY DISORDER; PRIORITY JOURNAL; QUESTIONNAIRE; RASH; SMITH LEMLI OPITZ SYNDROME; SUN EXPOSURE; ULTRAVIOLET A RADIATION;

EID: 0032766015     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0190-9622(99)70420-2     Document Type: Article

References (10)

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3. ER Elias M Irons Abnormal cholesterol metabolism in Smith-Lemli-Opitz syndrome Curr Opin Pediatr 7 1995 710 714
4. ER Elias MB Irons AD Hurley GS Tint G Salen Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) Am J Med Genet 68 1997 305 310
5. MB Irons ER Elias D Abuelo MJ Bull CL Greene VP Johnson Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial Am J Med Genet 68 1997 311 314
6. NA Nwokoro JJ Mulvihill Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz syndrome Am J Med Genet 68 1997 315 321
7. CR Charman A Ryan RM Tyrrell AD Pearse CF Arlett HA Kurwa Photosensitivity associated with the Smith-Lemli-Opitz syndrome Br J Dermatol 138 1998 885 888
8. Anstey AV, Ryan A, Rhodes LE, Charman CR, Arlett CF, Tyrrell RM, et al. Characterisation of photosensitivity in the Smith-Lemli-Opitz syndrome: a new congenital photosensitivity syndrome. Br J Dermatol In press.
9. 7 -reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome Am J Hum Genet 63 1998 55 62
10. HR Waterman FA Wijburg RC Hennekam P Vreken BT Poll-The L Dorland Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene Am J Hum Genet 63 1998 329 338