Identification of the Underlying Androgen Receptor Defect in the Dallas Reifenstein Family

What is it about?

Several generations of men in the "Dallas Reifenstein Family" suffer from Partial Androgen Insensitivity Syndrome (PAIS). Yet over 50 years of investigations failed to identify the underlying cause. We used next generation genetic sequencing techniques and were able to identify the underlying X-linked mutation. This family finally has a way to screen for affected females, allowing for better genetic counseling.

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