The filamins are cytoplasmic proteins that regulate the structure and activity of the
cytoskeleton by cross-linking actin into three-dimensional networks, linking the cell …

Recent evidence supports increased cortical activity and impaired brain connectivity in
autism, but the structural correlates of these abnormalities are not yet defined. We performed …

Background Holoprosencephaly (HPE), the most common malformation of the human
forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first …

Abstract Background Classical Galactosemia (CG) is an inborn error of galactose
metabolism caused by the deficiency of the galactose-1-phosphate uridyltransferase …

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-
Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of …

Background Classical homocystinuria (HCU) is a monogenic disease caused by the
deficient activity of cystathionine β‐synthase (CβS). The objective of this study was to identify …

Rothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive
genodermatosis, with poikiloderma as its hallmark. It is classified into two types: type I, with …

Background/Aims Mucopolysaccharidosis type I (MPS I) is a rare lysosomal storage disorder
treated with bone marrow transplantation or enzyme replacement therapy with laronidase, a …

Craniofrontonasal syndrome (CFNS) was first described by Cohen in 1979, and is a
distinctive genetic disorder whose main clinical manifestations include coronal synostosis …

OBJECTIVE: this study aimed to investigate the cognitive and behavioral profiles, as well as
the psychiatric symptoms and disorders in children with three different genetic syndromes …