Haplosufficiency of the melanocortin-4 receptor gene in individuals with deletions of 18q
β Scribed by J.D. Cody; X.T. Reveles; D.E. Hale; D. Lehman; H. Coon; R.J. Leach
- Publisher
- Springer
- Year
- 1999
- Tongue
- English
- Weight
- 132 KB
- Volume
- 105
- Category
- Article
- ISSN
- 0340-6717
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract Individuals with a constitutional chromosome abnormality consisting of a deletion of a portion of the long arm of chromosome 18 (18qβ) have a high incidence (βΌ95%) of dysmyelination. Neuroradiologic findings in affected children report a smaller corpus callosum, but this finding has not
Cleidocranial Dysplasia (CCD) is an autosomal dominant skeletal disorder characterized by hypoplastic or absent clavicles, increased head circumference, large fontanels, dental anomalies, and short stature. Hand malformations are also common. Mutations in RUNX2 cause CCD, but are not identified in a