The fibulin family of extracellular matrix/matricellular proteins is composed of long fibulins
(fibulin-1,-2,-6) and short fibulins (fibulin-3,-4,-5,-7) and is involved in protein–protein …

Cyclical inflation of the lungs depends on the elasticity of lung parenchymal tissues, a
mechanical property that is largely determined by elastic fibers and collagen fibers …

Objective To evaluate the performance of a diagnostic protocol for neonatal/infantile
cholestasis in which the main clinical patterns steered the early use of different genetic …

Aortic rupture and dissection are life-threatening complications of ascending thoracic aortic
aneurysms (aTAAs), and risk assessment has been largely based on the monitoring of …

We report a 9‐year‐old girl with hypotonia, severe motor delay, absent speech, and facial
dysmorphism who developed acute encephalopathy with severe neurological outcome. Trio …

Fibulin-4 is an extracellular matrix protein essential for elastic fiber formation. Frameshift and
missense mutations in the fibulin-4 gene (EFEMP2/FBLN4) cause autosomal recessive cutis …

Supravalvular aortic stenosis (SVAS) is an autosomal dominant disease resulting from
elastin (ELN) haploinsufficiency. Individuals with SVAS typically develop a thickened arterial …

Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic
diagnosis of rare diseases, but few reports describe its timely application and clinical impact …

Homozygous or compound heterozygous mutations in fibulin-4 (FBLN4) lead to autosomal
recessive cutis laxa type 1B (ARCL1B), a multisystem disorder characterized by significant …

Moyamoya angiopathy (MMA) is a rare cerebral vasculopathy in some cases occurring in
children. Incidence is higher in East Asia, where the heterozygous p. Arg4810Lys variant in …