DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms...
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LZTR1 (section DiGeorge Syndrome)
uncontrollably. DiGeorge syndrome (known as 22q11.2 deletion) caused by a deletion in the 22nd chromosome. Some of the typical symptoms associated with DiGeorge Syndrome...
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Neural crest (section DiGeorge syndrome)
conditions such as frontonasal dysplasia, Waardenburg–Shah syndrome, and DiGeorge syndrome. Defining the mechanisms of neural crest development may reveal...
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Williams syndrome (WS), also Williams–Beuren syndrome (WBS), is a genetic disorder that affects many parts of the body. Facial features frequently include...
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DNA-Ligase IV, common gamma chain, WHN-FOXN1, ZAP-70 and complete DiGeorge syndrome. It is fatal without treatment. The symptoms are very similar to graft-versus-host...
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The microprocessor complex subunit DGCR8 (DiGeorge syndrome critical region 8) is a protein that in humans is encoded by the DGCR8 gene. In other animals...
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syndrome Turner syndrome Noonan syndrome Patau syndrome DiGeorge syndrome Cri du chat syndrome Edwards syndrome Fragile X syndrome Okamoto syndrome It...
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deletion syndromes are detectable using karyotyping techniques. DiGeorge syndrome or velocardiofacial syndrome – most common microdeletion syndrome Prader–Willi...
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immunodeficiency now commonly referred to as DiGeorge syndrome. DiGeorge was the son of two Italian immigrants, Antonio DiGiorgio and his wife Emilia (née Taraborelli)...
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Turner syndrome (TS), commonly known as 45,X, or 45,X0, is a chromosomal disorder in which cells have only one X chromosome or are partially missing an...
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well. In any case, it remains under development for treatment of DiGeorge syndrome. Fasoracetam appears to modulate and stimulate all three groups of...
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variety of syndromes, including Edwards syndrome (trisomy 18), 1q21.1 duplication syndrome, basal cell nevus syndrome, DiGeorge syndrome and Loeys–Dietz...
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Klinefelter's syndrome Ovaries in Fanconi anemia, gonadal dysgenesis, trisomy X Thymus in DiGeorge syndrome Labia majora in popliteal pterygium syndrome Corpus...
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certain immunodeficiencies, such as DiGeorge Syndrome. Thymus transplantation is used to treat infants with DiGeorge syndrome, which results in an absent or...
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distal deletion syndrome appears to be a recurrent genomic disorder distinct from 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS; 188400)...
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Genocopy (section DiGeorge syndrome)
Sullivan KE (October 2007). "Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes". Lancet. 370 (9596): 1443–52. doi:10...
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Hemophagocytic lymphohistiocytosis (redirect from Hemophagocytic syndrome)
disorders such as severe combined immunodeficiency, DiGeorge syndrome, Wiskott–Aldrich syndrome, ataxia–telangiectasia, and dyskeratosis congenita);...
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Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...
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cells of the thyroid to produce calcitonin. It may not develop in DiGeorge syndrome. The ultimopharyngeal body is a small organ of the neck. It is found...
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List of genetic disorders (redirect from List of genetic syndromes)
RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...
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Pierre Robin sequence (redirect from Pierre robin syndrome)
disorder or syndrome. Disorders associated with PRS include Stickler syndrome, DiGeorge syndrome, fetal alcohol syndrome, Treacher Collins syndrome, and Patau...
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enteropathy type DiGeorge syndrome Distal arthrogryposis types 2B1 and 5D DPAGT1-congenital disorder of glycosylation Dubowitz syndrome Dysosteosclerosis...
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studies) of cases are associated with chromosome 22q11 deletions (DiGeorge Syndrome). The neural crest, specifically a population known as the cardiac...
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Bradlee, and journalist Sally Quinn. He was diagnosed in 1996 with DiGeorge syndrome. He attended The Lab School of Washington, and graduated from the...
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In molecular biology, DiGeorge syndrome critical region gene 5 (non-protein coding), also known as DGCR5, is a long non-coding RNA. In humans, it is located...
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chromosome 22q11 microdeletion syndrome (other names: DiGeorge syndrome, Schprintzen syndrome, velocardiofacial syndrome). Magnesium deficiency A defect...
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Understanding the Special Interest Areas of Children and Youth With Asperger Syndrome". Remedial and Special Education. 28 (3): 140–152. doi:10.1177/07419325070280030301...
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Diencephalic syndrome Diffuse infiltrative lymphocytosis syndrome DiGeorge syndrome Diogenes syndrome Diploid-triploid mosaicism Disconnection syndrome Distal...
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Chromosome 22 (redirect from Ring 22 syndrome)
eye syndrome Chronic myeloid leukemia DiGeorge syndrome Desmoplastic small round cell tumor 22q11.2 distal deletion syndrome 22q13 deletion syndrome or...
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including Angelman Syndrome, Prader-Willi Syndrome, and DiGeorge Syndrome. Some syndromes, including Angelman syndrome and Prader-Willi syndrome, are associated...
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