Hutchinson–Gilford Progeria Syndrome Caused by an
Yan Chu, Zigang Xu, Zhe Xu, Lin Ma
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LMNA R482Q Mutation in Partial Lipodystrophy Associated with Reduced Plasma Leptin Concentration* [PDF]
Robert A. Hegele +3 more
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Genetically Confirmed Familial Case of Nonsyndromic Cardiac Progeria Caused by the <i>LMNA</i> p.Asp300Asn Variant with Presumed Gonadal Mosaicism: Phenotypic Comparison with Previously Reported Patients. [PDF]
Nuzhnaya E +5 more
europepmc +1 more source
P407: A case of homozygous LMNA c.991C>T (p.Arg331Trp) laminopathy with predominant cardiomyopathy [PDF]
Rosalie M. Sterner +5 more
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Severe Mandibuloacral Dysplasia-Associated Lipodystrophy and Progeria in a Young Girl with a Novel Homozygous Arg527Cys LMNA Mutation [PDF]
Anil K. Agarwal +3 more
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Altered lipid metabolism and inflammatory programs associate with adipocyte loss in familial partial lipodystrophy 2. [PDF]
Maung JN +28 more
europepmc +1 more source
Why and How Are Infants with Hutchinson-Gilford Progeria Syndrome Born Without Severe Manifestations? [PDF]
Erokhina MA +3 more
europepmc +1 more source
Microtubule forces drive nuclear damage in LMNA cardiomyopathy. [PDF]
Amiad Pavlov D +11 more
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