Your search
In authors or contributors
Result 1 resource
-
We report a familial Sotos syndrome in two children, boy and girl, aged 17 and 8 years, and in their 44 year old mother, who displayed normal intelligence at adult age, but suffered from insulin dependent diabetes mellitus, bronchial asthma, and severe lipedema. The underlying missense mutation, C2175S, occurred in a conserved segment of the NSD1 gene. Our findings confirm that familial cases of SS are more likely to carry missense mutations. This case report may prove useful to avoid underestimation of the recurrence rate of SS, and to demonstrate that the developmental delay may normalize, enabling an independent life and having an own family.
Last update from database: 11/23/24, 8:38 AM (UTC)
Explore
Topic
- Genetics (1)
- Lipedema (1)
- Original studies and data (1)
Resource type
- Journal Article (1)
Publication year
-
Between 2000 and 2024
(1)
-
Between 2000 and 2009
(1)
- 2009 (1)
-
Between 2000 and 2009
(1)
Online resource
- yes (1)