UDN
@udnconnect
The Undiagnosed Diseases Network is a research study focused on rare & undiagnosed conditions. Tweets by UDN Data Management Coordinating Center @HarvardDBMI.
ID: 2434065128
https://linktr.ee/UDNconnect 08-04-2014 18:44:14
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Check out the most recent UDN publication! ⭐️Key takeaway: A research reanalysis identified a homozygous #DPH1 variant, diagnosing DEDSSH1 in a sibling pair initially labeled with Fine-Lubinsky syndrome, underscoring #DPH1 screening and RNAseq validation. pubmed.ncbi.nlm.nih.gov/39166428/
Check out the most recent UDN publication! ⭐️ Key takeaway: This study links #DENND5A variants to DEE by demonstrating disrupted neural progenitor cell division, offering insights into the condition’s mechanism and variant-specific clinical guidance. pubmed.ncbi.nlm.nih.gov/39174524/#full…