Multiple anomalies possibly caused by a human homologue to the mouse disorganization (Ds) gene.
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.
de Michelena
M I
MI
Instituto de Genética, Universidad Peruana Cayetano Heredia, Lima.
Stachurska
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D000818:Animals; D005260:Female; D006222:Hamartoma / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D007223:Infant; D007866:Leg / Q000002:abnormalities; D017880:Limb Deformities, Congenital; D051379:Mice; D011859:Radiography