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Multiple anomalies possibly caused by a human homologue to the mouse disorganization (Ds) gene
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1993
Year
GeneticsPathologyMolecular GeneticsDisease Gene IdentificationEmbryologyMendelian DisorderFemale InfantCongenital DisordersAbnormal DevelopmentKnockout MouseMouse Mutant DisorganizationMorphogenesisMouse DisorganizationDevelopmental AnomalyDevelopmental BiologyGenetic DisorderMultiple AnomaliesLimb Reduction AnomaliesMedicineHuman Homologue
We describe a female infant with a combination of hamartomas and limb reduction anomalies, which might be caused by a human gene homologous to the mouse mutant disorganization (Ds) gene. The family history suggests a paternal uncle may also have been affected.