• Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 1
• Clinical spectrum of male patients with OFD1 mutations
• CNS involvement in OFD1 syndrome: a clinical, molecular, and neuroimaging study
• Daughter and mother with orofaciodigital syndrome type 1 and glomerulocystic kidney disease
• Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations
• Facial comedonal acne in orofaciodigital syndrome type 1 caused by a novel frameshift variant in OFD1
• Familial case of oral-facial-digital syndrome type 1 (OFD 1)
• Multiple milia in a newborn with congenital malformations: oral-facial-digital syndrome type 1
• Ofd1 is required in limb bud patterning and endochondral bone development
• Oral-facial-digital syndrome type 1 with hypothalamic hamartoma and Dandy-Walker malformation
• Oral-facial-digital syndrome type 1: oral features in 12 patients submitted to clinical and radiographic examination
• Oral-facial-digital syndrome type 1: unique radiological findings
• Oral-facial-digital syndrome type I: surgical approach and a case report
• Orofaciodigital syndrome
• Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndrome
• Physical and dental manifestations of oral-facial-digital syndrome type I