Expanding the phenotype of the X-linked BCOR microphthalmia syndromes
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DOI: 10.1007/s00439-018-1896-x
Abstract: Two distinct syndromes arise from pathogenic variants in the X-linked gene BCOR (BCL-6 corepressor): oculofaciocardiodental (OFCD) syndrome, which affects females, and a severe microphthalmia (‘Lenz’-type) syndrome affecting males. OFCD is an X-linked dominant syndrome caused… read more here.
Keywords: phenotype; male linked; microphthalmia; linked bcor ... See more keywords