Extending Phenotypic Spectrum of 17q22 Microdeletion: Growth Hormone Deficiency.

Conclusion: In the few cases of interstitial 17q22 deletion in the literature, this is the first with growth hormone deficiency. This may contribute to the phenotypic spectrum of 17q22 microdeletion syndrome. As the reported cases increase, we believe that genotype-phenotype correlation will be better illuminated. PMID: 31997693 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/31997693?dopt=Abstract

Source: Fetal and Pediatric Pathology - January 31, 2020 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research