Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a
pathognomonic cerebellar and brainstem malformation, the “molar tooth sign,” and variable …

The Joubert syndrome (JS), Meckel syndrome (MKS), and nephronophthisis (NPH)
ciliopathy spectrum could be the poster child for advances and challenges in Mendelian …

Naevoid basal cell carcinoma syndrome (NBCCS), also known as basal cell naevus
syndrome or Gorlin syndrome, is an autosomal dominant tumour-predisposing disorder …

Nephronophthisis - Abstract - Europe PMC Sign in | Create an account https://orcid.org Europe
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Ciliopathies encompass a broad spectrum of diseases stemming from dysfunction of the
primary (non-motile) cilia, present on almost all cells in the human body. These disorders …

Background Joubert syndrome (JS) is a group of rare ciliopathies, mainly characterized by
cerebellar dysplasia representing the “molar tooth sign (MTS)” on neuroimaging, hypotonia …

Aim To describe visual function in children with Joubert syndrome and to investigate its
possible association with diagnostic and developmental aspects. Method This retrospective …

In 2002, heterozygous suppressor of fused variants (SUFU+/−) in the germline were
described to have a tumor suppressor role in the development of pediatric medulloblastoma …

Joubert syndrome (JBTS) is a Mendelian disorder of the primary cilium defined by the
clinical triad of hypotonia, developmental delay, and a distinct cerebellar malformation …

Human hereditary malformation syndromes are caused by mutations in the genes of the
signal transduction molecules involved in fetal development. Among them, the Sonic …