DiGeorge's syndrome presenting as hypocalcemia in an adult.
作者信息
Aljabri K S, Bebb R M
出版信息
Ann Saudi Med. 2005 Mar-Apr;25(2):173-4. doi: 10.5144/0256-4947.2005.173.
Abstract
摘要
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DiGeorge's syndrome presenting as hypocalcemia in an adult.以成人低钙血症为表现的迪格奥尔格综合征。
Ann Saudi Med. 2005 Mar-Apr;25(2):173-4. doi: 10.5144/0256-4947.2005.173.
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A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population.一项基于人群的22q11.2缺失研究：表型、发病率及对人群中主要出生缺陷的影响。
Pediatrics. 2003 Jul;112(1 Pt 1):101-7. doi: 10.1542/peds.112.1.101.
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Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.Tbx1基因突变导致多种心血管缺陷，并扰乱神经嵴和颅神经迁移途径。
Hum Mol Genet. 2002 Apr 15;11(8):915-22. doi: 10.1093/hmg/11.8.915.
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Hypocalcemic tetany as an early sign of DiGeorge syndrome in an adult woman.低钙血症性手足搐搦作为一名成年女性迪格奥尔格综合征的早期体征。
Am J Med. 2002 Feb 1;112(2):161-2. doi: 10.1016/s0002-9343(01)00955-x.
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Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.与22号染色体间质q11缺失相关的临床特征谱：一项欧洲合作研究。
J Med Genet. 1997 Oct;34(10):798-804. doi: 10.1136/jmg.34.10.798.
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A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.一种由于钙敏感受体突变导致的低钙血症伴高钙尿症的家族综合征。
N Engl J Med. 1996 Oct 10;335(15):1115-22. doi: 10.1056/NEJM199610103351505.
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Hypocalcemic emergencies.低钙血症急症
Endocrinol Metab Clin North Am. 1993 Jun;22(2):363-75.
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"CATCH 22" sans cardiac anomaly, thymic hypoplasia, cleft palate, and hypocalcaemia: cAtch 22. A common result of 22q11 deficiency?无心脏异常、胸腺发育不全、腭裂及低钙血症的“第22条军规”：第22条军规。22q11缺失的常见结果？
J Med Genet. 1994 Sep;31(9):741. doi: 10.1136/jmg.31.9.741.
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A deletion in chromosome 22 can cause DiGeorge syndrome.22号染色体的缺失会导致迪乔治综合征。
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