Triple A syndrome: two siblings with a novel mutation in the AAAS gene.

CONCLUSIONS: The unique characteristic of these two cases is the novel mutation in the AAAS gene, which is likely pathogenic. In addition, they showcase the genotype-phenotype variability of the disease, as well as the importance of early identification of the neurologic abnormalities, which can result in early intervention and possibly improved outcomes. PMID: 30612286 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/30612286?dopt=Abstract

Source: Hormones - January 7, 2019 Category: Endocrinology Tags: Hormones (Athens) Source Type: research