Allgrove Syndrome: A Report of New Pathological Variants in the: AAAS: Gene
Conclusions:
Allgrove syndrome is a rare genetic disease that is characterized by the triad of achalasia, alacrima, and adrenal insufficiency. Early diagnosis, confirmed with genetic testing, is essential to initiate an appropriate follow-up and prevent a life-threatening addisonian crisis. Report of novel mutations is important to further characterize this disease.
Source: Cornea - Category: Opthalmology Tags: Case Report Source Type: research
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