Meckel-Gruber syndrome

Тодорхойлолт

Meckel syndrome (MKS) is a monogenic disease characterised by a combination of renal cysts and variably associated features, including developmental anomalies of the central nervous system (usually occipital encephalocele), hepatic ductal dysplasia and cysts, and polydactyly, and a lethal course, with death occurring in the perinatal period.

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