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DiGeorge Syndrome [PDF]
, 2013 © 2013 Elsevier Inc. All rights reserved. In 1965, DiGeorge recognized the association of hypocalcemia secondary to parathyroid hypoplasia and the absence of the thymus. As additional cases were reported, it became clear that cardiovascular malformations and facial dysmorphism were often present as well.Aaron Stabel, Kimberly Kroeger-Geoppinger, Jennifer McCullagh, Deborah Weiss, Jennifer McCullagh, Naomi Schneider, Diana B. Newman, Winifred Schultz-Krohn, Fred R. Volkmar, Tara J. Glennon, Sarita Austin, Vince Winterling, Elizabeth Spencer, Claudia Califano, Robin Hansen, Paul El-Fishawy, Lawrence David Scahill, Oren Shtayermman, Betsey A. Benson, Whitney T. Brooks, Jessica L. Roesser, John T. Danial, C. Enjey Lin, Jeffrey J. Wood, Lawrence David Scahill, Dawn Wimpory, Susan Latham, Annette Karmiloff-Smith, Joyce Lum, Kristin Hodgson, Fred R. Volkmar, Michelle Lestrud, Isabelle Rapin, Amanda C. Gulsrud, Connie Kasari, Jennifer S. Beighley, Johnny L. Matson, Serena Wieder, Ilene Sharon Schwartz, Bonnie McBride, Sima Gerber, Evdokia Anagnostou, Deepali Mankad, Evdokia Anagnostou, Deepali Mankad, Fred R. Volkmar, Christina Corsello, Susan Leekam, Ann S. LeCouteur, Thomas P. Berney, Steve Kanne, Johnny Matson, Julie Worley, Paul Shattuck, Rizwan Parvez, Jennifer McCullagh, Sarita Austin, Celine A. Saulnier, Thomas Zane, Thomas Zane, Thomas Zane, Cheryl Davis, Thomas Zane, Cheryl Davis, Roger J. Jou, Lawrence H. Staib, Andrew Pickles, Robert LaRue, Marc Woodbury-Smith, Alvi Azad, Rebecca DeAquair, Anne Holmes, Tina Newman, Michael Miklos, Sarita Austin, Tobi Gilbert, Jonathan Sliva, Rebecca Munday, Paul El-Fishawy, Kevin A. Pelphrey, Carolyn A. Doyle, Christopher J. McDougle, Lawrence David Scahill, Lara Delmolino, Sandra Harris, Fred R. Volkmar, Fred R. Volkmar, Fred R. Volkmar, Fred R. Volkmar, Fred R. Volkmar, Kristin Ruedel, Amy Donaldson, Allison Bean, Diana B. Newman, Diana B. Newman, Moira Lewis, Micaela Violette, Susan Latham, Claudia Califano +98 morecore +5 more sourcesDiGeorge Syndrome [PDF]
, 2022 DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is the prototype of syndromes due to defective development of the third and fourth pharyngeal pouch. Even though the association between thymic aplasia and congenital hypoparathyroidism was first observed by Sedlackova in 1955 and Lobdell in 1959, only in 1965 were these signs classified as a ...Emilia Cirillo, Giuliana Giardino, Fiorentino Grasso, Vera Gallo, Claudio Pignata +4 moreopenaire +3 more sources
