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Molecular Genetics of a Patient with Mohr–Tranebjaerg Syndrome due to a New Mutation in the DDP1 Gene

New MutationMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseClinical GeneticsPathologyMolecular GeneticsDisease Gene IdentificationDdp1 GeneMedicineMohr–tranebjaerg SyndromeMonogenic Disorders