Hosted on MSN26d
Team links gene duplications, deletions within chromosome region to nonsyndromic bicuspid aortic valve disease
DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing. The condition can occur in individuals born from a parent with the dominant contiguous ...
Monadnock Ledger-Transcript4h
Morphs & Milestones in Francestown grew out of parents’ desire to help their daughter
At the opening of Morphs & Milestones’ new location at 74B Main St. in Francestown Feb. 4, a toddler reached tentatively out ...
News Medical26d
Unveiling the genetic roots of bicuspid aortic valve
Tovar Pensa, Co-First Author, University of Texas Health Science Center at Houston DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing.
pharmaphorum2d
Enzyvant gains double fast-track for rare disease drug
The investigational tissue-based therapy is for the treatment of complete DiGeorge Syndrome (cDGS), which represents a tiny subset of patients with the rare condition, DiGeorge Syndrome ...
Nature21d
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability
Reduced penetrance has been observed for several diseases that result from CNV, including DiGeorge syndrome and its reciprocal duplication syndrome, as well as speech problems in patients with ...
Science Daily27d
Link between gene duplications and deletions within chromosome region and nonsyndromic bicuspid aortic valve disease
DiGeorge syndrome, a 22q11.2 deletion syndrome, is caused when a small portion of chromosome 22 is missing. The condition can occur in individuals born from a parent with the dominant contiguous ...