Skip To Main Content
Roosler Billy on Muck Rack

Roosler Billy

As seen in: Frontiers
Is this you? As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work. Claim your profile

Get in touch with Roosler

Contact Roosler, search articles and posts on X, monitor coverage, and track replies from one place.

Learn more about Muck Rack

Actions

Share this page

Is this you?

As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.
Claim your profile

Articles

Case Report: First case of Triple A syndrome diagnosed in French Guiana: clinical presentation, molecular confirmation, and literature review

|
By French Guiana, CH Andrée Rosemon, Roosler Billy
| Frontiers
Abstract Triple A syndrome (OMIM #231550) is a rare autosomal recessive disorder defined by the triad of alacrima, adrenal insufficiency, and achalasia. Around 100 to 150 cases have been reported in the world literature since 1978. We report the first case diagnosed in French Guiana, in a 5-year-old boy who presented with severe hypoglycemic episodes. Exome sequencing identified a homozygous pathogenic variant in the AAAS gene (NM_015665.6:c.43C > A, p.Gln15Lys — ACMG Class 5).
Open in Who Shared Issue with article?
See all 1 articles