| Autor: |
Naguib KK; Kuwait Medical Genetics Centre, Maternity Hospital, Safat., Hamoud MS, Khalil ES, el-Khalifa MY |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of medical genetics [J Med Genet] 1991 Feb; Vol. 28 (2), pp. 138-9. |
| DOI: |
10.1136/jmg.28.2.138 |
| Abstrakt: |
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: |
MEDLINE |
| Externí odkaz: |
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