PMC Articles for MedGen (Select 181797) - PMC

Select item 84987011.

Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

Guangmin Chen, Ling Zhou, Qimou Chen, Juan Wang, Peng Jiang, Rufei Shen, Min Long, Houdi Zhou

Front Genet. 2021; 12: 741323. Published online 2021 Sep 23. doi: 10.3389/fgene.2021.741323

PMCID:: PMC8498701

Article PDF–1.6M

Select item 68856692.

Long-term outcome in a case series of Denys–Drash syndrome

Neus Roca, Marina Muñoz, Alejandro Cruz, Ramon Vilalta, Enrique Lara, Gema Ariceta

Clin Kidney J. 2019 Dec; 12(6): 836–839. Published online 2019 Mar 16. doi: 10.1093/ckj/sfz022

PMCID:: PMC6885669

Article PDF–309K

Select item 38807843.

46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1

Tracy Brandt, Leah Blanchard, Khyati Desai, Saroj Nimkarn, Ninette Cohen, Lisa Edelmann, Lakshmi Mehta

Eur J Med Genet. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Eur J Med Genet. 2013 Nov; 56(11): 10.1016/j.ejmg.2013.09.006. Published online 2013 Sep 20. doi: 10.1016/j.ejmg.2013.09.006

PMCID:: PMC3880784

Article PDF–1002K

Select item 18720534.

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function

Lin Lin, Pascal Philibert, Bruno Ferraz-de-Souza, Daniel Kelberman, Tessa Homfray, Assunta Albanese, Veruska Molini, Neil J. Sebire, Silvia Einaudi, Gerard S. Conway, Ieuan A. Hughes, J. Larry Jameson, Charles Sultan, Mehul T. Dattani, John C. Achermann

J Clin Endocrinol Metab. Author manuscript; available in PMC 2007 May 21.

Published in final edited form as: J Clin Endocrinol Metab. 2007 Mar; 92(3): 991–999. Published online 2007 Jan 2. doi: 10.1210/jc.2006-1672