Article
Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
Human genetics - 1 Jul 2014
Basel-Vanagaite Lina, Yilmaz Rüstem, Tang Sha, Reuter Miriam S, Rahner Nils, Grange Dorothy K, Mortenson Megan, Koty Patrick, Feenstra Heather, Farwell Gonzalez Kelly D, Sticht Heinrich, Boddaert Nathalie, Désir Julie, Anyane-Yeboa Kwame, Zweier Christiane, Reis André, Kubisch Christian, Jewett Tamison, Zeng Wenqi, Borck Guntram
Abstract excerpt
Biallelic mutations of UBE3B have recently been shown to cause Kaufman oculocerebrofacial syndrome (also reported as blepharophimosis-ptosis-intellectual disability syndrome), an autosomal recessive condition characterized by hypotonia, developmental delay, intellectual disability, congenital anomalies, characteristic facial dysmorphic features, and low cholesterol levels. To date, six patients with either...
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