genetics

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Dyggve-Melchior-Clausen syndrome is a rare autosomal-recessive disorder, the gene for which maps to chromosome 18q21.1.

The gene implicated in the disorder is Dymeclin, which may have a role in process of intracellular digestion of proteins.

Reference:

1) El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V. (2003). Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet 2003 Feb 1;12(3):357-364

2) OMIM citation

Last reviewed 01/2018