A new microduplication syndrome encompassing the region of the Miller-Dieker (17p13 deletion) syndrome. [electronic resource]
Producer: 20091215Description: 703-10 p. digitalISSN:- 1468-6244
- 1-Alkyl-2-acetylglycerophosphocholine Esterase -- genetics
- Adolescent
- Child, Preschool
- Chromosomes, Human, Pair 17
- Classical Lissencephalies and Subcortical Band Heterotopias -- genetics
- Developmental Disabilities -- genetics
- Facial Bones -- abnormalities
- Female
- Gene Duplication
- Humans
- Infant
- Male
- Microtubule-Associated Proteins -- genetics
- Muscle Hypotonia -- complications
- Syndrome
No physical items for this record
Publication Type: Case Reports; Letter
There are no comments on this title.
Log in to your account to post a comment.