Mobile DNA in Endocrinology: LINE-1 Retrotransposon Causing Partial Androgen Insensitivity Syndrome

CONTEXT: Androgen insensitivity syndrome (AIS) is the most common cause of disorders of sex development in 46,XY individuals. It is an X-linked condition usually caused by pathogenic allelic variants in the androgen receptor (AR) gene. The phenotype depends on the AR variant, ranging from severe und...

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Détails bibliographiques
Publié dans:J Clin Endocrinol Metab
Auteurs principaux: Batista, Rafael Loch, Yamaguchi, Katsumi, Rodrigues, Andresa di Santi, Nishi, Mirian Yumie, Goodier, John L, Carvalho, Luciani Renata, Domenice, Sorahia, Costa, Elaine M F, Kazazian, Haig H, Mendonca, Berenice Bilharinho
Format: Artigo
Langue:Inglês
Publié: Endocrine Society 2019
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6834070/
https://ncbi.nlm.nih.gov/pubmed/31393562
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2019-00144
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