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Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata

Mendelian DisorderCytogeneticsIntra-familial Phenotypic VariationGeneticsEbp MutationGenetic DisorderPathologyChromosome BiologyMolecular GeneticsX-chromosome InactivationChromosomal RearrangementMedicineMonogenic Disorders