Craniosynostosis is a very heterogeneous group of disorders, in the etiology of which
genetics play an important role. Chromosomal alterations are important causative …

Current evidence indicates that certain immune molecules such as components of the
complement system are directly involved in neurobiological processes related to brain …

Whereas autism spectrum disorder (ASD) exhibits striking heterogeneity in genetics and
clinical presentation, dysfunction of mechanistic target of rapamycin complex 1 (mTORC1) …

Knobloch syndrome (KS) is an autosomal recessive disorder defined by the occurrence of
high myopia, vitreoretinal degeneration with retinal detachment, macular abnormalities and …

Knobloch syndrome (KS) is a rare disease characterized by severe ocular alterations,
including vitreoretinal degeneration associated with retinal detachment and occipital scalp …

Autism spectrum disorder is a complex and genetically heterogeneous disorder, which has
hampered the identification of the etiological factors in each patient and, consequently, the …

We report the identification of a novel mutation at a highly conserved residue within the N-
terminal region of spermine synthase (SMS) in a second family with Snyder–Robinson X …

The Reelin–DAB1 signaling pathway plays a crucial role in regulating neuronal migration
and synapse function. Although many rare heterozygous variants in the Reelin gene (RELN) …

Collagen XVIII, a proteoglycan, is a component of basement membranes (BMs). There are
three distinct isoforms that differ only by their N-terminal, but with a specific pattern of tissue …

Weight gain and metabolic abnormalities are serious side effects associated with the use of
several second generation antipsychotics (SGA). The adipose tissue has been considered a …