Genetically Confirmed Familial Case of Nonsyndromic Cardiac Progeria Caused by the LMNA p.Asp300Asn Variant with Presumed Gonadal Mosaicism: Phenotypic Comparison with Previously Reported Patients
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We describe the first genetically confirmed familial case of nonsyndromic cardiac progeria caused by the LMNA NM_170707.4:c.898G>A (p.Asp300Asn) variant, with evidence suggesting gonadal mosaicism as the mechanism of inheritance. The proband developed severe e... ...
