hypertriglyceridemia

A novel autosomal recessive lipodystrophy syndrome due to homozygous LMNA variant
Nivedita Patni, Sarah Hatab, Chao Xing, Zhengyang Zhou, Claudia Quittner, Abhimanyu Garg

Journal of Medical Genetics Jun 2020, 57 (6) 422-426; DOI: 10.1136/jmedgenet-2019-106395
Establishing the role of PLVAP in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype
Alina Kurolap, Orly Eshach-Adiv, Claudia Gonzaga-Jauregui, Katya Dolnikov, Adi Mory, Tamar Paperna, Tova Hershkovitz, John D Overton, Marielle Kaplan, Fabian Glaser, Yaniv Zohar, Alan R Shuldiner, Gidon Berger, Hagit N Baris

Journal of Medical Genetics Nov 2018, 55 (11) 779-784; DOI: 10.1136/jmedgenet-2018-105299

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hypertriglyceridemia