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Identified gene–gene interactions required:incompletely penetrant digenic/oligogenic disease Hirschsprung disease (,), holoprosencephaly(–), haemochromatosis (–) b. Inheritance pattern Mechanism Examples 1. Non-Mendelian patterns of inheritance incomplete penetrance a. Schetchik energomera se 301 instrukciya. Apparently sporadic occurrence, no vertical transmission Recurrent de novo mutation, unable to reproduce Apert syndrome FGFR2 (,), anophthalmia SOX2 (), Cornelia de Lange NIPBL (,), congenital central hypoventilation PHOX2B (,) 2. Mitochondrial disease Cytoplasmic maternal inheritance, heteroplasmy leads to unpredictable severity and tissue involvement Multiple anomalies caused by mitochondrial mutations leading to: muscle, heart, kidney, retinal disease and diabetes (–).

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