ESPE Yearbook of Paediatric Endocrinology

ESPE Yearbook of Paediatric Endocrinology

ISSN 1662-4009 (online)

Published by BioScientifica

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ey0019.6-8 | Basic and Genetic Research of DSD | ESPEYB19

6.8. Targeting the non-coding genome for the diagnosis of disorders of sex development

G Atlas , R Sreenivasan , A Sinclair

Sex Dev. 2021;15(5-6):392-410. PMID: 34634785, doi: 10.1159/000519238. Brief Summary: This review summarizes how non-coding genomic variants are identified and validated, and why non-coding defects found in DSD patients have to be considered when investigating the genetic etiology of DSD.Accurate genetic diagnosis of 46,XY DSD patients remains crucial for early treatment and ...
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Published by BioScientifica

ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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