DISEASES

Disease-gene associations mined from literature

Human genes for Saethre-Chotzen syndrome

Saethre-Chotzen syndrome [DOID:14768]

An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull.

Synonyms:  Saethre-Chotzen syndrome,  DOID:14768,  SaethreChotzen syndrome,  Saethre-Chotzen disease,  Saethre-Chotzen disorder ...

Linkouts:  OMIM