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MeSH:(Steroid Metabolism, Inborn Errors)

2.Clinical feature and genetic analysis of a family affected by congenital bile acid synthesis defect type 2: identification of 2 novel mutations in AKR1D1 gene.

Ying CHENG ; Li GUO ; Mei DENG ; Yuan-Zong SONG

Chinese Journal of Contemporary Pediatrics 2017;19(7):734-740

3.Identification of a novel variant of SRD5A2 gene in a child featuring steroid 5α-reductase type 2 deficiency.

Mali LI ; Fengyu CHE ; Shichao QIU ; Zhihua WANG

Chinese Journal of Medical Genetics 2021;38(12):1233-1236

4.Two cases of Antley-Bixler syndrome caused by mutations in different genes, FGFR2 and POR.

Hyewon WOO ; Jung Min KO ; Choong Ho SHIN ; Sei Won YANG

Journal of Genetic Medicine 2016;13(1):31-35

5.A Case of Antley-Bixler Syndrome.

Young Rae KIM ; Kook In PARK ; Choon Sik YOON ; Ran NAMGUNG ; Chul LEE ; Dong Gwan HAN

Journal of the Korean Pediatric Society 1995;38(4):582-585

6.Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency.

Tong CHENG ; Hao WANG ; Bing HAN ; Hui ZHU ; Hai-Jun YAO ; Shuang-Xia ZHAO ; Wen-Jiao ZHU ; Hua-Ling ZHAI ; Fu-Guo CHEN ; Huai-Dong SONG ; Kai-Xiang CHENG ; Yang LIU ; Jie QIAO

Asian Journal of Andrology 2019;21(6):577-581

7.A Practical Approach to Genetic Hypokalemia.

Shih Hua LIN ; Sung Sen YANG ; Tom CHAU

Electrolytes & Blood Pressure 2010;8(1):38-50

8.Anesthetic management of a neonate with Antley-Bixler syndrome: A case report.

Young Suk KWON ; Jae Keun JO ; Yun Hee LIM ; Jun Heum YON ; Kye Min KIM

Anesthesia and Pain Medicine 2011;6(1):89-92

9.Genetic Syndromes Associated with Craniosynostosis.

Jung Min KO

Journal of Korean Neurosurgical Society 2016;59(3):187-191

10.A case of Antley-Bixler syndrome caused by novel POR mutations.

Can PENG ; Chengzi HUANG ; Hu TAN ; Lingqian WU

Chinese Journal of Medical Genetics 2019;36(10):1025-1027

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