Purpose We describe a mother and all her offspring with congenital superior oblique palsy (CSOP), and a father and all his sons with unilateral CSOP. We discuss the inheritance pattern in our ...
Study results regarding the clinical spectrum and inheritance pattern of GDF2 pathogenic variants suggest incomplete penetrance and/or variability of expressivity with a semi-dominant pattern of ...
The population-level, mutigenerational study found that both near and distant relatives of women with primary ovarian insufficiency were at a higher risk of the condition compared with matched ...
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