Disease: Varadi Papp syndrome
- 25 years' history of Varadi-Papp syndrome (orofaciodigital syndrome VI
- Age of the grandmother in Down's syndrome
- Anaesthetic management of a child with Varadi-Papp (orofacial digital syndrome type VI) syndrome
- Another Arab patient with overlap of Váradi-Papp/Opitz trigonocephaly syndromes?
- Another case of Varadi-Papp Syndrome with a molar tooth sign
- Association of oral-facial-digital syndrome type VI (Varadi-Papp syndrome) with optochiasmatic pilocytic astrocytoma
- Bilateral lipomatous hamartoma of the tongue: A case report in a child with oral-facial-digital syndrome type VI
- C5orf42 is the major gene responsible for OFD syndrome type VI
- Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI
- Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome
- Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI
- Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral-facial-digital anomalies
- Expanding the allelic disorders linked to TCTN1 to include Varadi syndrome (Orofaciodigital syndrome type VI)
- Grandmaternal age at birth of parents of children with trisomy 21
- INTU-related oral-facial-digital syndrome type VI: A confirmatory report
- Joubert Syndrome
- Joubert syndrome with atrial septal defect and persistent left superior vena cava
- Laryngeal and tracheal anomalies in an infant with oral-facial-digital syndrome type VI (Váradi-Papp): report of a transitional type
- Metabolic-associated fatty liver disease is associated with acute pancreatitis with more severe course: Post hoc analysis of a prospectively collected international registry
- MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone
- Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes
- Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
- Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
- Numerical syndromology: a mathematical approach to the nosology of complex phenotypes
- Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
- Orofacial manifestations and dental considerations in association with Varadi-Papp syndrome: report of a rare case
- Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals
- Prenatal diagnosis of orofaciodigital syndrome Varadi-Papp type
- Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review
- Prenatal sonographic findings in a case of Varadi-Papp syndrome
- Ruling out fetal Sanfilippo's syndrome (mucopolysaccharidosis IIIA) in the first trimester of pregnancy
- Surgically Induced Necrotizing Scleritis Following Strabismus Surgery Treated Successfully with Topical N-acetylcysteine in a Child with Congenital Fibrosis of Extraocular Muscles and Varadi Papp Syndrome
- Syndrome of polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation in endogamic gypsies
- The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders
- Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case
- Varadi-Papp syndrome: report of a case
- Whole-exome sequencing identified novel variants in CPLANE1 that causes oral-facial-digital syndrome Ⅵ by inducing primary cilia abnormality