ESPE Abstracts

ESPE Abstracts

Published by BioScientifica

Page 1 of about 1 results

hrp0098p1-95 | Sex Endocrinology and Gonads 1 | ESPE2024

Phenotypes linked to duplication upstream of SOX9: New insights into presentation and diagnosis

Unal Edip , Tekmenuray Unal Aysel , Cayir Atilla , Deniz Papatya Cakir Esra , Beyazit Nurcan , Kolbasi Baris , Gurpinar Tosun Busra , Demirbilek Huseyin , Guran Tulay

Context: Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited.Objective: To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream ...
0 shares

Published by BioScientifica

ESPE Abstracts

© Bioscientifica 2024 | Privacy policy | Cookie settings

BiosciAbstracts

Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.

Find out more