Article
Kaufman oculocerebrofacial syndrome: Novel UBE3B mutations and clinical features in four unrelated patients.
American journal of medical genetics. Part A - 1 Jan 2018
Yilmaz Rüstem, Szakszon Katalin, Altmann Anna, Altunoglu Umut, Senturk Leyli, McGuire Marianne, Calabrese Olga, Madan-Khetarpal Suneeta, Basel-Vanagaite Lina, Borck Guntram
Abstract excerpt
The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral fissures and intellectual disability associate with a distinct set of other morphological features. Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic...
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