Literature DB >> 27376433

A novel CYP11B1 mutation in a Turkish patient with 11β-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis.

Banu Sarer Yurekli1, Nilufer Ozdemir Kutbay2, Huseyin Onay2, Ilgin Yildirim Simsir2, Gokcen Unal Kocabas2, Mehmet Erdogan2, Sevki Cetinkalp2, Gokhan Ozgen2, Fusun Saygili2.   

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Year:  2016        PMID： 27376433     DOI： 10.14310/horm.2002.1654

Source DB:  PubMed          Journal:  Hormones (Athens)        ISSN： 1109-3099            Impact factor:   2.885


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  2 in total

1.  A Novel Compound Heterozygous CYP17A1 Variant Causes 17α-Hydroxylase/17, 20-Lyase Deficiency.

Authors:  Hong Chen; Ke Yuan; Bingtao Zhang; Zexiao Jia; Chun Chen; Yilin Zhu; Yaping Sun; Hui Zhou; Wendong Huang; Li Liang; Qingfeng Yan; Chunlin Wang
Journal:  Front Genet       Date:  2019-10-22       Impact factor: 4.599

Review 2.  Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review.

Authors:  Dongdong Wang; Jiahui Wang; Tong Tong; Qing Yang
Journal:  J Ovarian Res       Date:  2018-09-17       Impact factor: 4.234
  2 in total

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