Novel pathogenic mutations in disorders of sex development associated genes cause 46,XY complete gonadal dysgenesis
Author:
Funder
Xi'an Jiaotong University
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference36 articles.
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2. Emerging issues in disorders/differences of sex development (DSD);Adam;Am. J. Med. Genet. Part C Semin. Med. Genet.,2017
3. A naturally occurring deletion in the SRY promoter region affecting the Sp1 binding site is associated with sex reversal;Assumpção;J. Endocrinol. Investig.,2005
4. Two new point mutations of the SRY gene identified in two Italian 46,XY females with gonadal dysgenesis;Baldazzi;Clin. Genet.,2003
5. Exome sequencing for the diagnosis of 46,XY disorders of sex development;Baxter;J. Clin. Endocrinol. Metab.,2015
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