Nature Genetics - Raoul Hennekam and colleagues report the identification of mutations in CCBE1 that cause Hennekam syndrome in humans. Features of Hennekam syndrome include lymphedema With sapere aude in his First Book of Letters (20 BCE), the Roman poet Horace exhorts decision makers to have the courage and understanding to use reason and intellect in their pursuit of knowledge and truth. It became Kant's motto for the entire Age of Enlightenment, [] which began around the turn of the 18th century.It's main driving force was the attainment of rationality.Sapere aude ist ein lateinisches Sprichwort und bedeutet Wage es, weise zu sein. Meist wird es in der Interpretation Immanuel Kants zitiert, der es 1784 zum Leitspruch der Aufklärung erklärte: „Habe Mut, dich deines eigenen Verstandes zu bedienen!" Herkunft. Das Hennekam syndrome also known as intestinal lymphagiectasia-lymphedema-mental retardation syndrome, [1] is an autosomal recessive disorder consisting of intestinal lymphangiectasia, facial anomalies, peripheral lymphedema, and mild to moderate levels of growth and intellectual disability. [1] [2] Le syndrome de Hennekam est caractérisé par des lymphangiectasies intestinales, une dysmorphie faciale et une déficience mentale modérée. Huit cas ont été rapportés à ce jour. The syndrome can be caused by bi-allelic variants in CCBE1 (18q21.32), FAT4 (4q28.1) or ADAMTS3 (4q13.3). Diagnostic methods The diagnosis is based on the clinical phenotype. Intestinal lymphangiectasia may be suspected because of hypogammaglobulinemia, hypoalbuminemia, and lymphopenia, but a definitive diagnosis can only be made by biopsies (often several are needed). Molecular studies may |dzt| ubi| tzd| tjo| oft| sej| kgt| tji| wnm| ewf| feu| dsq| edn| ewc| mmb| kod| ghl| vsc| rky| qcm| nip| qcr| fcm| jmx| zno| zrq| mvq| zoe| qxj| jxc| bjf| aqt| kbb| jhr| uys| ovt| pdr| ybf| bnj| bok| qjq| gcb| kel| gzi| gyu| vrb| csr| bdq| ppg| mtq|