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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Hlavní autoři: Petroli, Reginaldo J, Maciel-Guerra, Andréa T, Soardi, Fernanda C, de Calais, Flávia L, Guerra-Junior, Gil, de Mello, Maricilda Palandi
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2011
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Research Article
On-line přístup: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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