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Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype–genotype correlation
Clinical Endocrinology ( IF 3.2 ) Pub Date : 2024-02-18 , DOI: 10.1111/cen.15032 Aditya Phadte 1 , Charushila Dhole 2 , Samiksha Hegishte 1 , Vijaya Sarathi 3 , Anurag Lila 1 , Jugal V. Gada 2 , Saba Samad Memon 1 , Sneha Arya 1 , Manjiri Karlekar 1 , Virendra Patil 1 , Premlata K. Varthakavi 2 , Nalini Shah 1 , Nikhil M. Bhagwat 2 , Tushar Bandgar 1
Clinical Endocrinology ( IF 3.2 ) Pub Date : 2024-02-18 , DOI: 10.1111/cen.15032 Aditya Phadte 1 , Charushila Dhole 2 , Samiksha Hegishte 1 , Vijaya Sarathi 3 , Anurag Lila 1 , Jugal V. Gada 2 , Saba Samad Memon 1 , Sneha Arya 1 , Manjiri Karlekar 1 , Virendra Patil 1 , Premlata K. Varthakavi 2 , Nalini Shah 1 , Nikhil M. Bhagwat 2 , Tushar Bandgar 1
Affiliation
Lipoid congenital adrenal hyperplasia (LCAH) is caused by mutations in STAR. A systematic review of phenotype–genotype correlation and data on testicular histology in LCAH patients is unavailable. We aim to describe our experience and provide phenotype–genotype correlation.
中文翻译：
类固醇生成急性调节蛋白（STAR）缺乏：我们对表型-基因型相关性的经验和系统评价
类脂先天性肾上腺增生症 (LCAH) 是由STAR突变引起的。目前尚无对 LCAH 患者表型-基因型相关性和睾丸组织学数据的系统评价。我们的目标是描述我们的经验并提供表型-基因型相关性。
更新日期：2024-02-18
中文翻译：
类固醇生成急性调节蛋白（STAR）缺乏：我们对表型-基因型相关性的经验和系统评价
类脂先天性肾上腺增生症 (LCAH) 是由STAR突变引起的。目前尚无对 LCAH 患者表型-基因型相关性和睾丸组织学数据的系统评价。我们的目标是描述我们的经验并提供表型-基因型相关性。
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