Human homologue for the mouse mutant disorganisation: does it exist?
| Autor: | E S Khalil, M S Hamoud, K.K. Naguib, M Y el-Khalifa |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
Male
Proband Heterozygote congenital hereditary and neonatal diseases and abnormalities Ectromelia Ratón Mutant Genitalia Male Testicle Biology Kidney Abdominal wall Mice Genetics medicine Animals Humans Abnormalities Multiple Genetics (clinical) Leg Infant Newborn Heterozygote advantage Anatomy medicine.disease Mice Mutant Strains medicine.anatomical_structure Agenesis Penis Research Article |
| Zdroj: | Journal of Medical Genetics. 28:138-139 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg.28.2.138 |
| Popis: | We describe a newborn Arab male with defects similar to those seen in mice heterozygous for the mutant disorganisation (DS) gene. He had complete absence of the left lower limb including the left pelvic bone, hamartomas arising from the abdominal wall, a small penis, absent left half of the scrotal sac, absent left testicle, anterior displacement of the anus, and multiple vertebral defects. The similarity between the proband's anomalies and those found in affected heterozygotes for DS support the possibility of a human homologue of the DS gene. |
| Databáze: | OpenAIRE |
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