Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome-Reference-Cited by-同舟云学术

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Published:2013-05-17 Issue:8 Volume:50 Page:493-499
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Flex Elisabetta,Ciolfi Andrea,Caputo Viviana,Fodale Valentina,Leoni Chiara,Melis Daniela,Bedeschi Maria Francesca,Mazzanti Laura,Pizzuti Antonio,Tartaglia Marco,Zampino Giuseppe

Publisher

BMJ

Subject

Genetics(clinical),Genetics

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5. Blepharophimosis-mental retardation (BMR) syndromes: a proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive;Verloes;Am J Med Genet A,2006

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