Integrins mediate cell–matrix and cell–cell interactions and integrate extracellular cues to
the cytoskeleton and cellular signalling pathways. Integrin function on the cell surface is …

The term filaminopathy was introduced after a truncating mutation in the dimerization
domain of filamin C (FLNc) was shown to be responsible for a devastating muscle disease …

Background Low bone mineral density (BMD) is a primary risk factor for osteoporosis and is
a highly heritable trait, but appears to be influenced by many genes. Genome-wide linkage …

We report a case of an infant with unique and unreported combinations of brain anomalies.
The patient showed distinctive facial findings, severe delay in psychomotor development …

Larsen-syndrome is a rare genetic skeletal dysplasia belonging to the group of actin-binding
filamin B associated diseases. The features include congenital dislocations of the large …

Представлено клиническое наблюдение синдрома Ларсена у плода. Синдром Ларсена-
скелетная дисплазия, характерными проявлениями которой являются множественные …

Larsen syndrome is a rare genetic disorder, with an incidence of 1/100,000. Joint
hypermobility, congenital joint dislocations, spinal deformity and distinctive facial features …

Objectives: The aim of the present article is to describe the clinical features and genetic
conditions of the clinical syndromes/association characterized by facial dysmorphism …

Larsen syndrome is a rare genetic disorder, with an incidence of 1/100,000. Joint
hypermobility, congenital joint dislocations, spinal deformity and distinctive facial features …

• Head, eyes, ears, nose, and throat: Mild head molding, mild caput, anterior fontanelle flat
and patent, short neck, prominent forehead, flat face, depressed nasal bridge, pupils equal …