A possible human homologue for the mouse mutant disorganisation.
AUTOR(ES)
Winter, R M
RESUMO
The mouse mutant disorganisation (Ds) is a semidominant gene with variable penetrance in heterozygotes and lethality in homozygotes; 67% of heterozygotes have multiple defects and the rest have single defects. Fifty-three percent have cranioschisis and execephaly, 40% have hamartomas represented by papillae of variable size and shape protruding from the body, sometimes containing cartilage, and 33% have limb abnormalities. A child is presented with defects similar to those seen in mice heterozygous for Ds. He had shortening of the upper and lower segments of the right leg with a popliteal web and nine toes on the same side. A finger-like structure arose from the abdomen and one kidney was absent. The homology between this infant and Ds mice is discussed and published reports of human cases with similar abnormalities are reviewed.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1015642Documentos Relacionados
- Another human homologue for the mouse mutant disorganisation.
- Two additional patients representing the possible human homologue for the mouse mutant disorganisation (Ds)
- Human homologue for the mouse mutant disorganisation: does it exist?
- Cleft lip and palate, sensorineural deafness, and sacral lipoma in two brothers: a possible example of the disorganisation mutant.
- Disorganisation: a possible cause of apparent conjoint twinning.
