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X-linked Mohr-Tranebjaerg syndrome: Variable phenotype in females

Date:
Wednesday, Sep 28, 2016 11:00am – 12:00pm
Conference:
NSGC 2016
Authors:
Heather Newman, Shelley Towner, William Wilson, Zöe Powis
  • This abstract contributes additional phenotypic information regarding TIMM8A alterations and highlights the variability of phenotypic presentations of Mohr-Tranebjaerg syndrome in female carriers, which is especially relevant for genetic counseling of affected families.
Abstract Poster