• Aplasia cutis congenita, high myopia, and cone-rod dysfunction in two sibs: a new autosomal recessive disorder
• Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation
• Clinical features and mutational analysis of a case with Sensenbrenner syndrome
• Dental Anomalies in Ciliopathies: Lessons from Patients with <em>BBS2</em>, <em>BBS7,</em> and <em>EVC2</em> Mutations
• Hereditary hearing loss with saddle-nose and myopia
• Hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy, mental delay, growth deficiency, ectodermal defects, and osteopenia
• Hypohidrotic Ectodermal, Dysplasia with Features of Acanthosis Nigricans and Chronic Candidiasis
• RETINAL DYSTROPHY IN JEUNE SYNDROME: A MULTIMODAL IMAGING CHARACTERIZATION
• Significant ophthalmoarthropathy associated with ectodermal dysplasia in a child with Marshall-Stickler overlap: a case report
• The Marshall syndrome: report of a new family