DeSanctis–Cacchione syndrome

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An autosomal recessive disorder in which there is xeroderma pigmentosum, often of complementation group A, together with mental deficiency, dwarfism, and gonadal hypoplasia. Has also been associated with mutation in the ERCC6 gene, part of the nucleotide excision repair (NER) pathway that is defective in Cockayne syndrome type B.

Subjects: Medicine and Health.

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