Article
Growth hormone deficiency in patients with 22q11.2 deletion: expanding the phenotype.
Pediatrics - 1 May 1998
Weinzimer S A, McDonald-McGinn D M, Driscoll D A, Emanuel B S, Zackai E H, Moshang T
Abstract excerpt
The list of findings associated with the 22q11.2 deletion is quite long and varies from patient to patient. The hallmark features include: conoruncal cardiac anomalies, palatal defects, thymic aplasia or hypoplasia, T cell abnormalities, mild facial dysmorphia, and learning disabilities. The 22q1...
Topics
- Child
- Child, Preschool
- Chromosomes, Human, Pair 22
- Female
- Gene Deletion
- Growth Disorders
- Human Growth Hormone
- Humans
- Male
- Phenotype