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 22q11.2 deletion has been seen in association with the DiGeorge sequence, velocardiofacial syndrome (VCFS), conotruncal...
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