Disease: Oral facial digital syndrome- type 3
- <em>OFD1</em> mutation induced renal failure and polycystic kidney disease in a pair of childhood male twins in China
- A Rare Case of Cleft Palate Associated With Tongue Hamartoma: A Case Report and Systematic Review
- An initial study on the agreement of body temperatures measured by infrared cameras and oral thermometry
- Bardet-Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations
- Centriolar Protein C2cd3 Is Required for Craniofacial Development
- Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants
- Clinical spectrum of male patients with OFD1 mutations
- Clinicopathological analysis of 105 patients with fibrous dysplasia of cranio-maxillofacial region
- Gnathological and osteopathic treatments with digital evalua- tions before and after therapies: a case report of a patient with ehlers-danlos syndrome
- Imaging Similarities Between Oral-Facial-Digital Syndrome Type 1 and Aicardi Syndrome: Prenatal and Postnatal Magnetic Resonance Imaging (MRI) Findings in 4 Patients
- New Insights into Cystic Kidney Diseases
- Oral-Facial-Digital Syndrome Type 1: Further Clinical and Molecular Delineation in 2 New Families
- ORAL-FACIAL-DIGITAL SYNDROME TYPE I (CLINICAL CASE)
- The OFD1 protein is a novel player in selective autophagy: another tile to the cilia/autophagy puzzle
- The role of OFD1 in selective autophagy
- Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene, OFD1