Whole exome sequencing reveals copy number variants in individuals with disorders of sex development-Reference-Cited by-同舟云学术

Whole exome sequencing reveals copy number variants in individuals with disorders of sex development

Published:2022-04 Issue: Volume:546 Page:111570
ISSN:0303-7207
Container-title:Molecular and Cellular Endocrinology
language:en
Short-container-title:Molecular and Cellular Endocrinology

Author:

Sreenivasan Rajini^ORCID,Bell Katrina,van den Bergen Jocelyn^ORCID,Robevska Gorjana,Belluoccio Daniele,Dahiya Rachana,Leong Gary M.^ORCID,Dulon Jérôme,Touraine Philippe,Tucker Elena J.^ORCID,Ayers Katie,Sinclair Andrew

Funder

NHMRC

Endocrine Society of Australia

State Government of Victoria

Publisher

Elsevier BV

Subject

Endocrinology,Molecular Biology,Biochemistry

Reference24 articles.

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2. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development;Audi;J. Clin. Endocrinol. Metab.,2010

3. Genotype versus phenotype in families with androgen insensitivity syndrome;Boehmer;J. Clin. Endocrinol. Metab.,2001

4. Molecular basis of androgen insensitivity;Brinkmann;Mol. Cell. Endocrinol.,2001

5. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort;Eggers;Genome Biol.,2016

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