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De Sanctis-Cacchione syndrome

Pronunciation: de-sahnk'tis kah-she-o'ne

Definition: xeroderma pigmentosum with mental deficiency, dwarfism, and gonadal hypoplasia; autosomal recessive inheritance associated with defective DNA repair following damage by ultraviolet irradiation.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.