Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development

46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype–phenotype correlation, the other types of 46,XY DSD are less well defined, and thus, the precise diagnosis is c...

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Bibliographic Details
Main Authors: Zofia Kolesinska, James Acierno, S Faisal Ahmed, Cheng Xu, Karina Kapczuk, Anna Skorczyk-Werner, Hanna Mikos, Aleksandra Rojek, Andreas Massouras, Maciej R Krawczynski, Nelly Pitteloud, Marek Niedziela
Format: Article
Language:English
Published: Bioscientifica 2018-12-01
Series:Endocrine Connections
Subjects:
array-comparative genomic hybridization
differences and/or disorders of sex development
massive parallel/next generation sequencing
oligogenicity
46
XY DSD
Online Access:https://ec.bioscientifica.com/view/journals/ec/7/12/EC-18-0472.xml

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https://ec.bioscientifica.com/view/journals/ec/7/12/EC-18-0472.xml

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