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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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Detalhes bibliográficos
Main Authors: Petroli, Reginaldo J, Maciel-Guerra, Andréa T, Soardi, Fernanda C, de Calais, Flávia L, Guerra-Junior, Gil, de Mello, Maricilda Palandi
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3121623/
https://ncbi.nlm.nih.gov/pubmed/21645389
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1756-0500-4-173
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