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A Novel De novo GATA-binding Protein 3 Mutation in a Patient with Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome 被引量:3
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作者 xue-ying chu Yue-Peng Li +5 位作者 Min Nie Ou Wang Yan Jiang Mei Li Wei-Bo Xia Xiao-Ping Xing 《Chinese Medical Journal》 SCIE CAS CSCD 2017年第11期1378-1380,共3页
INTRODUCTION Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome, also called Barakat syndrome, is an autosomal dominant genetic disease caused by haploinsufficiency of the GATA-binding pr... INTRODUCTION Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome, also called Barakat syndrome, is an autosomal dominant genetic disease caused by haploinsufficiency of the GATA-binding protein 3 (GATA3) gene located on the 10pl 5 chromosome. 展开更多
关键词 De novo Mutation GATA-binding Protein 3 Gene Hypoparathyroidism Sensorineural Deafness and Renal DysplasiaSyndrome
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Primary Adrenal Insufficiency Due to Bilateral Adrenal Hematomas in a Patient with Primary Antiphospholipid Syndrome 被引量:3
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作者 xue-ying chu Lu Zhang +1 位作者 Xiao-Xi Yang Tie-Nan Zhu 《Chinese Medical Journal》 SCIE CAS CSCD 2017年第20期2517-2518,共2页
To the Editor: In 2016, a 35-year-old Chinese man was admitted to our hospital who had experienced multiple thromboses for 9 years, severe fatigue, and oliguria for a total of 3 weeks. The patient had been diagnosed ... To the Editor: In 2016, a 35-year-old Chinese man was admitted to our hospital who had experienced multiple thromboses for 9 years, severe fatigue, and oliguria for a total of 3 weeks. The patient had been diagnosed with pulmonary embolism and multiple deep vein thromboses at a local hospital 9 years ago. The patient was prescribed warfarin, and the international normalized ratio (INR) was maintained between 2.42 and 3.18. While laboratory findings revealed a prolonged case (77.8 s) of activated partial thromboplastin time (APTT) at that time, no further investigations were carried out and anticoagulation therapy for the patient was terminated alter 3 months. 展开更多
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