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Case Reports
. 2013 Nov-Dec;30(6):e230-1.
doi: 10.1111/j.1525-1470.2012.01735.x. Epub 2012 May 21.

Microphthalmia with linear skin defects syndrome

Ana García-Rabasco  1 , Blanca De-Unamuno, Francisco Martínez, Isabel Febrer-Bosch, Víctor Alegre-de-Miquel
Affiliations
Case Reports

Microphthalmia with linear skin defects syndrome

Ana García-Rabasco et al. Pediatr Dermatol. 2013 Nov-Dec.

Abstract

Microphthalmia with linear skin defects (MLS) or microcornea, dermal aplasia and sclerocornea (MIDAS) syndrome is a rare X-linked-dominant disorder. We present a patient with agenesis of corpus callosum, ocular abnormalities, and multiple skin defects. The cytogenetic studies of the MLS critical region (Xp22.2) were normal, but a skewed X-chromosome inactivation pattern (85:15) was observed.

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