The mammalian Hedgehog (Hh) signaling pathway is required for development and for
maintenance of adult stem cells, and overactivation of the pathway can cause …

Congenital hydrocephalus (CH) is caused by genetic mutations, but whether factors
impacting human genetic mutations are disease-specific remains elusive. Given two factors …

Primary cilia are hair-like organelles that play crucial roles in vertebrate development,
organogenesis and when dysfunctional result in pleiotropic human genetic disorders called …

Townes-Brocks syndrome (TBS) is characterized by a spectrum of malformations in the
digits, ears, and kidneys. These anomalies overlap those seen in a growing number of …

The kinesin-4 member KIF7 plays critical roles in Hedgehog signaling in vertebrate cells.
KIF7 is an atypical kinesin as it binds to microtubules but is immotile. We demonstrate that …

Background Joubert syndrome is a recessive neurodevelopmental disorder characterized
by clinical and genetic heterogeneity. Clinical hallmarks include hypotonia, ataxia, facial …

Macrocephaly, characterized by an abnormally large head circumference, often co-occurs
with distinctive finger changes, presenting a diagnostic challenge for clinicians. This review …

Meier–Gorlin syndrome (MGS) is a rare, congenital primordial microcephalic dwarfism
disorder. MGS is caused by genetic variants of components of the origin recognition …

Mutations of KIF7, a key ciliary component of the Sonic hedgehog (SHH) pathway, are
associated in humans with malformations of the cerebral cortex and clinical features …

Joubert syndrome (JBTS) is a predominantly autosomal recessive neurodevelopmental
disorder that presents with characteristic malformations of the cerebellar vermis, superior …