• A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy
• A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IV
• Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome"
• Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
• Ciliary Genes in Renal Cystic Diseases
• Clinical spectrum of male patients with OFD1 mutations
• Compound heterozygous alterations in intraflagellar transport protein <em>CLUAP1</em> in a child with a novel Joubert and oral-facial-digital overlap syndrome
• Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1
• Imaging Similarities Between Oral-Facial-Digital Syndrome Type 1 and Aicardi Syndrome: Prenatal and Postnatal Magnetic Resonance Imaging (MRI) Findings in 4 Patients
• In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses
• Midline Cleft of Lip With Preaxial Polydactyly in One Hand: A Possible New Variation of Thurston Syndrome?
• New Insights into Cystic Kidney Diseases
• Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
• ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE)
• Orofacial-Digital Syndrome Type IV
• Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
• TCTN3 mutations cause Mohr-Majewski syndrome