Author:
Kariminejad Ariana,Ajeawung Norbert Fonya,Bozorgmehr Bita,Dionne-Laporte Alexandre,Molidperee Sirinart,Najafi Kimia,Gibbs Richard A,Lee Brendan H,Hennekam Raoul C,Campeau Philippe M
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference15 articles.
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3. Basel-Vanagaite, L., Yilmaz, R., Tang, S., Reuter, M. S., Rahner, N., Grange, D. K. et al. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations. Hum. Genet. 133, 939–949 (2014).
4. Flex, E., Ciolfi, A., Caputo, V., Fodale, V., Leoni, C., Melis, D. et al. Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. J. Med. Genet. 50, 493–499 (2013).
5. Pedurupillay, C. R., Baroy, T., Holmgren, A., Blomhoff, A., Vigeland, M. D., Sheng, Y. et al. Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. Am. J. Med. Genet. A 167A, 657–663 (2015).
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