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Genetic Disorders
Velocardiofacial syndrome is the most common syndrome associated with a cleft palate.
… Velocardiofacial syndrome is the most common syndrome associated with a cleft … syndrome. It also has other clinical names such as DiGeorge syndrome, conotruncal anomaly face syndrome (CTAF), … Feeding Problems, COMT, TBX1, 22q11.2 Deletion Syndrome, DiGeorge Syndrome, Conotruncal Anomaly Face Syndrome, CTAF … …
News Release
NHGRI researchers have successfully used facial recognition software to diagnose a rare, genetic disease in known as DiGeorge syndrome.
… and Latin Americans. … The disease, 22q11.2 deletion syndrome , also known as DiGeorge syndrome and velocardiofacial syndrome, affects from … to help healthcare providers better recognize and diagnose DiGeorge syndrome, deliver critical, early interventions and …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… peripheral blood of African Americans related to metabolic syndrome and abdominal obesity. (Health Services Research) … J. Adams: Novel SOX10 variant causing Waardenburg syndrome without cutaneous pigmentary changes. (Clinical … ( PRODH ) plus a microdeletion in the proximal part of DiGeorge syndrome chromosomal region (DGCR) in juvenile onset …