X-linked Mohr-Tranebjaerg syndrome: Variable phenotype in females
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.
Authors: Heather Newman; Zöe Powis; Shelley Towner; William Wilson