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 skeletal dysplasias (osteochondrodysplasias) are a heterogeneous group of more than
350 disorders frequently associated with orthopedic complications and varying degrees of …

Craniofacial development involves several complex tissue movements including several
fusion processes to form the frontonasal and maxillary structures, including the upper lip and …

Arthrogryposes–multiple joint contractures–are a clinically and etiologically heterogeneous
class of diseases, where accurate diagnosis, recognition of the underlying pathology and …

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 …

During craniofacial development, defective growth and fusion of the upper lip and/or palate
can cause orofacial clefts (OFCs), which are among the most common structural birth defects …

Mutations in the filamin C gene (FLNC) cause a myofibrillar myopathy (MFM),
morphologically characterized by focal myofibrillar destruction and abnormal accumulation …

We used whole-exome sequencing to study three individuals with a distinct condition
characterized by short stature, chondrodysplasia with brachydactyly, congenital joint …

Deficiency of carbohydrate sulfotransferase 3 (CHST3; also known as chondroitin-6-
sulfotransferase) has been reported in a single kindred so far and in association with a …

Filamin C (FLNC) mutations in humans cause myofibrillar myopathy (MFM) and
cardiomyopathy, characterized by protein aggregation and myofibrillar degeneration. We …