Meckel–Gruber syndrome (MKS) is a lethal autosomal recessive congenital anomaly
syndrome caused by mutations in genes encoding proteins that are structural or functional …

Liver development requires two linked processes: differentiation of the various hepatic cell
types from their embryonic progenitors and the arrangement of those cells into structures …

The biliary tract consists of a network of intrahepatic and extrahepatic ducts that collect and
drain the bile produced by hepatocytes to the gut. The bile ducts are lined by …

Objective To identify genetic causes of COACH syndrome Background COACH syndrome is
a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia …

This article is the third and last in a series entitled The Finnish Disease Heritage I–III. All the
36 rare hereditary diseases belonging to this entity are described for clinical and molecular …

This article provides an overview of the major pathologic manifestations of Meckel-Gruber
syndrome, current knowledge about its pathogenesis, minimal diagnostic criteria, and …

The acronym COACH defines an autosomal recessive condition of Cerebellar vermis
hypo/aplasia, Oligophrenia, congenital Ataxia, Coloboma and Hepatic fibrosis. Patients …

Osteosarcoma affects both adolescents and adults, and some improvement in the survival
rate for affected patients has been reached in the last decade. Still, non-specificity and …

The hepatorenal fibrocystic (HRFC) syndromes are a heterogeneous group of severe
monogenic conditions that may be detected before birth. Commonly, HRFC syndromes …

During liver development, liver progenitors called hepatoblasts differentiate into
hepatocytesor biliary cells. Recently, we showed that the segregation between hepatocytes …