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Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family

BACKGROUND: The androgen insensitivity syndrome may cause developmental failure of normal male external genitalia in individuals with 46,XY karyotype. It results from the diminished or absent biological action of androgens, which is mediated by the androgen receptor in both embryo and secondary sex...

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Detalles Bibliográficos
Autores principales:	Petroli, Reginaldo J, Maciel-Guerra, Andréa T, Soardi, Fernanda C, de Calais, Flávia L, Guerra-Junior, Gil, de Mello, Maricilda Palandi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2011
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3121623/ https://www.ncbi.nlm.nih.gov/pubmed/21645389 http://dx.doi.org/10.1186/1756-0500-4-173

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