Associated Papers
Prenatal diagnosis of recurrent moderate skeletal dysplasias in lamin B receptors.
Shen X et al.
Frontiers in Genetics, 2022
The Lamin B receptor is essential for cholesterol synthesis and perturbed by disease-causing mutations.
Tsai PL et al.
Elife, 2016
Pelger-Huët anomaly and Greenberg skeletal dysplasia: LBR-associated diseases of cholesterol metabolism.
Turner EM et al.
Rare Diseases (austin, Tex.), 2016
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