Overview

Smith–Magenis syndrome


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A set of complex developmental abnormalities affecting a wide range of neural, skeletal, and organ systems. Caused in most cases by a deletion in chromosome 17p11.2, but can also be caused by mutations in the RAI1 gene (retinoic acid inducible-1) and a milder phenotype is associated with duplication of the same chromosomal region.

Subjects: Medicine and Health.


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