Communication of genetic information to at‐risk relatives during the multidisciplinary monitoring of vascular Ehlers–Danlos syndrome in a French referral clinic
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DOI: 10.1002/jgc4.1211
Abstract: Vascular Ehlers–Danlos syndrome (vEDS) is a rare inherited disorder leading to arterial, digestive, and uterine complications due to pathogenic COL3A1 variants. Identification of causal variants allows family screening, provided that relatives have previously been informed,… read more here.
Keywords: communication genetic; risk; information; diagnosis ... See more keywords
Family Communication About Genetic Risk of Hereditary Cardiomyopathies and Arrhythmias: an Integrative Review
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DOI: 10.1007/s10897-018-0225-9
Abstract: Screening for hereditary cardiomyopathies and arrhythmias (HCA) may enable early detection, treatment, targeted surveillance, and result in effective prevention of debilitating complications and sudden cardiac death. Screening at-risk family members for HCA is conducted through… read more here.
Keywords: communication genetic; risk; communication; family communication ... See more keywords