🙌Exciting News! Prof. Michaud and his colleagues have released a groundbreaking scientific article on #MCOPS12, shedding light on novel variants of the RARB gene mutation and their impact on disease symptoms.
It is the most comprehensive study on MCOPS12 to date. Medical data of 52 patients were collected highlighting the clinical heterogeneity of this ultra-rare and severe disease. It also characterizes and correlates the functional impact of each gene mutation variant with the underlying disease mechanism.
Check out the publication here 👉 https://www.gimjournal.org/article/S1098-3600(23)00869-9/fulltext
Together, we’re taking an important step forward in understanding MCOPS12, bringing hope to the entire community affected by this condition and their loved ones! 💙
#MCOPS12 #RareDiseaseResearch #MedicalBreakthrough #rarediseases #factfriday