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17 p, 1.4 MB Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease / Flück, Christa E. (Bern University Hospital) ; Audí, Laura (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Sauter, Kay-Sara (Bern University Hospital) ; Martinez de LaPiscina, Idoia (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Castaño, Luis (Hospital Universitario de Cruces (Barakaldo, País Basc)) ; Esteva, Isabel (Hospital Regional Universitario de Málaga) ; Camats Tarruella, Núria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Universitat Autònoma de Barcelona
Disorders/differences of sex development (DSD) are the result of a discordance between chromosomal, gonadal, and genital sex. DSD may be due to mutations in any of the genes involved in sex determination and development in general, as well as gonadal and/or genital development specifically. [...]
2019 - 10.3389/fgene.2019.00746
Frontiers in genetics, Vol. 10 (29 2019) , p. 746  
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