Digeorge syndrome - Open Access .click

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Thymus transplantation for complete DiGeorge syndrome: European experience [PDF]

Journal of Allergy and Clinical Immunology, 2017
Thymus transplantation is a promising strategy for the treatment of athymic complete DiGeorge syndrome (cDGS)
Kimberly Gilmour, Anna L Furmanski, Neil J Sébire +2 more
exaly +3 more sources

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The spectrum of the DiGeorge syndrome

The Journal of Pediatrics, 1979
Clinical and autopsy data on 25 patients with DiGeorge syndrome and its variants are presented. Congenital heart disease was the most common presenting complaint; 15 patients came to medical attention in the first 48 hours of life because of cyanosis, cardiac murmurs, or tachycardia and tachypnea.
M E, Conley +3 more
openaire +2 more sources

DiGeorge syndrome: an update

Current Opinion in Cardiology, 2004
This article is an update on DiGeorge syndrome research focusing on the synergy of human and model systems genetics toward the understanding of conotruncal and aortic arch defects.The identification of mutations of the human T-Box1 (TBX1) gene and progress on research of Tbx1 function in mouse development demonstrate the pathogenetic role of this gene ...
openaire +3 more sources

The DiGeorge Syndrome and the Fetal Alcohol Syndrome

Archives of Pediatrics & Adolescent Medicine, 1982
Four patients with clinical and laboratory features of the DiGeorge syndrome had a definite history of maternal alcoholism. Certain clinical abnormalities in the patients were characteristic of the DiGeorge syndrome as well as the fetal alcohol syndrome, including abnormalities of the eyes, ears, mouth, face, cardiovascular system, CNS, and immune ...
A J, Ammann +4 more
openaire +2 more sources

DiGeorge Syndrome