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1. Additional file 7 of Genetic aetiology of primary adrenal insufficiency in Chinese children

Author

Chang, Zhuo, Lu, Wei, Zhao, Zhuhui, Xi, Li, Li, Xiaojing, Ye, Rong, Ni, Jinwen, Pei, Zhou, Zhang, Miaoying, Cheng, Ruoqian, Zheng, Zhangqian, Sun, Chengjun, Wu, Jing, and Luo, Feihong

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, nutritional and metabolic diseases, urologic and male genital diseases, female genital diseases and pregnancy complications
Abstract

Additional file 7: Table S4. Clinical features of CAH patients without pathologic biallelic variants.

Published
2021
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3. Additional file 4 of Genetic aetiology of primary adrenal insufficiency in Chinese children

Author

Chang, Zhuo, Lu, Wei, Zhao, Zhuhui, Xi, Li, Li, Xiaojing, Ye, Rong, Ni, Jinwen, Pei, Zhou, Zhang, Miaoying, Cheng, Ruoqian, Zheng, Zhangqian, Sun, Chengjun, Wu, Jing, and Luo, Feihong

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, nutritional and metabolic diseases, urologic and male genital diseases, female genital diseases and pregnancy complications
Abstract

Additional file 4: Table S1. PCR primers for CYP21A2 amplification.

Published
2021
Full Text
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4. Additional file 7 of Genetic aetiology of primary adrenal insufficiency in Chinese children

Author

Chang, Zhuo, Lu, Wei, Zhao, Zhuhui, Xi, Li, Li, Xiaojing, Ye, Rong, Ni, Jinwen, Pei, Zhou, Zhang, Miaoying, Cheng, Ruoqian, Zheng, Zhangqian, Sun, Chengjun, Wu, Jing, and Luo, Feihong

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, nutritional and metabolic diseases, urologic and male genital diseases, female genital diseases and pregnancy complications
Abstract

Additional file 7: Table S4. Clinical features of CAH patients without pathologic biallelic variants.

Published
2021
Full Text
View/download PDF

5. Additional file 1 of Genetic aetiology of primary adrenal insufficiency in Chinese children

Author

Chang, Zhuo, Lu, Wei, Zhao, Zhuhui, Xi, Li, Li, Xiaojing, Ye, Rong, Ni, Jinwen, Pei, Zhou, Zhang, Miaoying, Cheng, Ruoqian, Zheng, Zhangqian, Sun, Chengjun, Wu, Jing, and Luo, Feihong

Subjects
congenital, hereditary, and neonatal diseases and abnormalities
Abstract

Additional file 1: Fig. S1. Diagnostic algorithm for PAI patients. For a patient with primary adrenal insufficiency, a high serum level of 17-OHP suggests CAH, and he or she was subjected to CYP21A2 sequencing and MLPA. Children with normal or lower 17-OHP levels accompanied by developmental delay, intellectual disability or congenital anomalies underwent Array-GCH examination. WES was performed for the remaining patients.

Published
2021
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7. Additional file 4 of Genetic aetiology of primary adrenal insufficiency in Chinese children

Author

Chang, Zhuo, Lu, Wei, Zhao, Zhuhui, Xi, Li, Li, Xiaojing, Ye, Rong, Ni, Jinwen, Pei, Zhou, Zhang, Miaoying, Cheng, Ruoqian, Zheng, Zhangqian, Sun, Chengjun, Wu, Jing, and Luo, Feihong

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, endocrine system diseases, nutritional and metabolic diseases, urologic and male genital diseases, female genital diseases and pregnancy complications
Abstract

Additional file 4: Table S1. PCR primers for CYP21A2 amplification.

Published
2021
Full Text
View/download PDF

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