The epithelial surface of the respiratory tract is coated with a protective film of mucus secreted
by epithelial goblet and submucosal gland cells. Histology of the airway mucosa and …

Cobblestone lissencephaly represents a peculiar brain malformation with characteristic
radiological anomalies, defined as cortical dysplasia combined with dysmyelination, dysplastic …

Cobblestone lissencephaly is a peculiar brain malformation with characteristic radiological
anomalies. It is defined as cortical dysplasia that results when neuroglial overmigration into …

The phenotypic spectrum of GLI3 mutations includes autosomal dominant Greig
cephalopolysyndactyly syndrome (GCPS) and Pallister–Hall syndrome (PHS). PHS was first …

L1 syndrome results from mutations in the L1CAM gene located at Xq28. It encompasses a
wide spectrum of diseases, X-linked hydrocephalus being the most severe phenotype …

Background Osteogenesis imperfecta (OI), commonly called “brittle bone disease”, is a
genetic disorder characterised by increased bone fragility and decreased bone density due to …

Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary
hypoplasias, are incompletely understood. To elucidate the pathogenetics of human lung …

OBJECTIVE: To investigate gross and microscopic placental lesions associated with pre-eclampsia
and to determine which lesions are most strongly linked to serious pregnancy …

Ciliopathies are a group of genetic multi-systemic disorders related to dysfunction of the
primary cilium, a sensory organelle present at the cell surface that regulates key signaling …

Oral-facial-digital syndrome type VI (OFD VI) is a recessive ciliopathy defined by two diagnostic
criteria: molar tooth sign (MTS) and one or more of the following: (1) tongue hamartoma (s…