• A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family
• A particular case of deafness-oligodontia syndrome
• Anomalies of tooth numbers including peg-shaping
• Complete and isolated congenital aglossia: case report and treatment of sequelae using rapid prototyping models
• Congenital profound sensorineural deafness and oligodontia: a new syndrome
• Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations
• Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome. Its association with conductive hearing loss
• Eponym: Johanson-Blizzard syndrome
• GAPO syndrome with deafness: new feature or incidental finding?
• Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families
• Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
• Interstitial deletion of 4p15.32p16.3 in a boy with minor anomalies, hearing loss, borderline intelligence, and oligodontia
• Linear sebaceous nevus syndrome: report of a patient with unusual associated abnormalities
• Oculodentodigital dysplasia
• Palmoplantar hyperkeratosis with short stature, facial dysmorphism, and hypodontia--a new syndrome?: case report
• Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3
• Waardenburg syndrome type I with heterochromia iridis and circumscribed hypopigmentation of the skin