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Select item 98871301.

Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia

Jie Liu, Hong-Mei Dai, Gao-Peng Guang, Wen-Mu Hu, Ping Jin

Front Genet. 2023; 14: 1096454. Published online 2023 Jan 17. doi: 10.3389/fgene.2023.1096454

PMCID:: PMC9887130

Abstract Article PDF–1.5M

Select item 96664002.

Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review

Wenli Lu, Tingting Zhang, Lidan Zhang, Xueqing Wang, Sheng Lv, Junqi Wang, Lei Ye, Yuan Xiao, Zhiya Dong, Wei Wang, Shuoyue Sun, Chuanyin Li, Ronggui Hu, Guang Ning, Xiaoyu Ma

Front Endocrinol (Lausanne) 2022; 13: 947762. Published online 2022 Nov 2. doi: 10.3389/fendo.2022.947762

PMCID:: PMC9666400

Abstract Article PDF–2.4M

Select item 81142843.

A Novel Intronic Pathogenic Variant in STAR With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia

Erin Finn, Kimberly Kripps, Christina Chambers, Michele Rapp, Naomi J. L. Meeks, Fang Xu, Wuyan Chen, Austin A. Larson, Natalie J. Nokoff

J Investig Med High Impact Case Rep. 2021 Jan-Dec; 9: 23247096211014685. Published online 2021 May 8. doi: 10.1177/23247096211014685

PMCID:: PMC8114284

Abstract Article PDF–402K

Select item 78593874.

Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency

Moritake Higa, Akiko Zaha, Akiko Takushi, Nami Morishima, Toyofumi Majikina, Takeshi Touma, Michio Shimabukuro, Hiroaki Masuzaki, Misa Honda, Tomonobu Hasegawa

Hum Genome Var. 2021; 8: 6. Published online 2021 Feb 3. doi: 10.1038/s41439-021-00138-w

PMCID:: PMC7859387

Abstract Article PDF–433K

Select item 75040705.

Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

Efstathios Katharopoulos, Natascia Di Iorgi, Paula Fernandez-Alvarez, Amit V. Pandey, Michael Groessl, Shraddha Dubey, Núria Camats, Flavia Napoli, Giuseppa Patti, Marilea Lezzi, Mohamad Maghnie, Christa E. Flück

Int J Mol Sci. 2020 Sep; 21(17): 6185. Published online 2020 Aug 27. doi: 10.3390/ijms21176185

PMCID:: PMC7504070

Abstract Article PDF–1.8M

Select item 66085546.

Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review

Tomohiro Ishii, Naoaki Hori, Naoko Amano, Misaki Aya, Hirotaka Shibata, Noriyuki Katsumata, Tomonobu Hasegawa

J Endocr Soc. 2019 Jul 1; 3(7): 1367–1374. Published online 2019 May 16. doi: 10.1210/js.2019-00086

PMCID:: PMC6608554

Abstract Article PDF–227K

Select item 54801217.

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa

Ital J Pediatr. 2017; 43: 57. Published online 2017 Jun 20. doi: 10.1186/s13052-017-0371-y

PMCID:: PMC5480121

Abstract Article PDF–738K

Select item 54578898.

A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia

Rong Fu, Lin Lu, Jun Jiang, Min Nie, Xiaojing Wang, Zhaolin Lu

Medicine (Baltimore) 2017 May; 96(21): e6994. Published online 2017 May 26. doi: 10.1097/MD.0000000000006994

PMCID:: PMC5457889

Abstract Article PDF–266K

Select item 51165719.

Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P Mutation

Khalil Khoury, Elie Barbar, Youssef Ainmelk, Annie Ouellet, Pierre Lavigne, Jean-Guy LeHoux

Front Neurosci. 2016; 10: 527. Published online 2016 Nov 21. doi: 10.3389/fnins.2016.00527

PMCID:: PMC5116571

Abstract Article PDF–1.5M

Select item 481527910.

Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient

Jasmeet Kaur, Luis Casas, Himangshu S Bose

Endocrinol Diabetes Metab Case Rep. 2016; 2016: 150119. Published online 2016 Mar 2. doi: 10.1530/EDM-15-0119

PMCID:: PMC4815279

Abstract Article PDF–321K

Select item 370191811.

Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India

Lakshmi Vasudevan, Rajesh Joshi, Dhanjit Kumar Das, Sudha Rao, Daksha Sanghavi, Shiny Babu, Parag M. Tamhankar

J Clin Res Pediatr Endocrinol. 2013 Jun; 5(2): 121–124. Published online 2013 May 30. doi: 10.4274/Jcrpe.927

PMCID:: PMC3701918

Abstract Article PDF–457K

Select item 344614112.

A Case of Lipoid Congenital Adrenal Hyperplasia Presenting with Cholestasis

Ahmad Khodadad, Vajiheh Modaresi, Mohammad-Ali Kiani, Ali Rabani, Bahar Pakseresht

Iran J Pediatr. 2011 Dec; 21(4): 539–542.

PMCID:: PMC3446141

Abstract Article PDF–185K

Select item 286076913.

Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency

Louise A. Metherell, Danielle Naville, George Halaby, Martine Begeot, Angela Huebner, Gudrun Nürnberg, Peter Nürnberg, Jane Green, Jeremy W. Tomlinson, Nils P. Krone, Lin Lin, Michael Racine, Dan M. Berney, John C. Achermann, Wiebke Arlt, Adrian J. L. Clark

J Clin Endocrinol Metab. 2009 Oct; 94(10): 3865–3871. Published online 2009 Sep 22. doi: 10.1210/jc.2009-0467

PMCID:: PMC2860769

Abstract Article

Select item 1022631414.

Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation

Ayman A Bakkar, Abdulaziz Alsaedi, Naglaa M Kamal, Enad Althobaiti, Lujain A Aboulkhair, Abdullah M Almalki, Shaima A Alsalmi, Qaydah Alharthi, Sara A Abosabie, Salma AS Abosabie

Clin Med Insights Endocrinol Diabetes. 2023; 16: 11795514231167059. Published online 2023 May 26. doi: 10.1177/11795514231167059