Article
Darier disease in Israel: combined evaluation of genetic and neuropsychiatric aspects.
The British journal of dermatology - 1 Mar 2016
Dodiuk-Gad R P, Cohen-Barak E, Khayat M, Milo H, Amariglio-Diskin L, Danial-Faran N, Sah M, Ziv M, Shani-Adir A, Amichai B, Zlotogorski A, Borochowitz Z, Rozenman D, Shalev S
Abstract excerpt
BACKGROUND: Darier disease (DD) is a rare genodermatosis caused by heterozygous mutations in the ATP2A2 gene. It has been associated with neuropsychiatric manifestations. OBJECTIVES: To investigate the genetic basis of Israeli patients with DD, and its association with the neuropsychiatric phenotype. METHODS: A cohort of 32 families comprising 74 affected individuals and 13 unaffected family members was recruited...
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