In 1965 DiGeorge described congenital aplasia of ... He was referred to the Children's Hospital Medical Center because of persistent hypocalcemia and recurrent infections. On physical examination ...

Mice genetically engineered to mimic human DiGeorge syndrome provide clues to the genetic basis of this chromosomal deletion syndrome and question UFD1L as the sole candidate gene. You have full ...

A subgroup of patients with 22q11.2 microdeletion and partial DiGeorge syndrome (pDGS ... and compared them with normal values of healthy children (n = 75). Comparing two age periods, low overall ...

Ella Gregorich, from Great Gonerby, was born with DiGeorge syndrome, which can cause heart problems and learning difficulties. The three-year-old receives overnight care from trained nurses ...

Receiving Rare Pediatric Disease and Orphan Drug designations from the FDA are important mile markers in our efforts to develop the first therapeutic indicated for the neuropsychiatric ...

Two years ago, they finally got an answer, Mercy was diagnosed with DiGeorge Syndrome also known as ... the better the outcome for the child,” said Little. The Littles say simply knowing about ...