Oculofaciocardiodental syndrome: a rare case and review of the literature.
about
Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.A new approach to chromosome-wide analysis of X-linked markers identifies new associations in Asian and European case-parent triads of orofacial clefts.Ocular findings in a patient with oculofaciocardiodental (OFCD) syndrome and a novel BCOR pathogenic variant.Recurrent BCOR internal tandem duplication and BCOR or BCL6 expression distinguish primitive myxoid mesenchymal tumor of infancy from congenital infantile fibrosarcoma.Identification of nuclear localization signals within the human BCOR protein.Oculo-facio-cardio-dental syndrome with craniosynostosis, temporal hypertrichosis, and deafnessOculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells
P2860
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P2860
Oculofaciocardiodental syndrome: a rare case and review of the literature.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
@zh-my
2011年学术文章
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2011年學術文章
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2011年學術文章
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2011年學術文章
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name
Oculofaciocardiodental syndrome: a rare case and review of the literature.
@ast
Oculofaciocardiodental syndrome: a rare case and review of the literature.
@en
type
label
Oculofaciocardiodental syndrome: a rare case and review of the literature.
@ast
Oculofaciocardiodental syndrome: a rare case and review of the literature.
@en
prefLabel
Oculofaciocardiodental syndrome: a rare case and review of the literature.
@ast
Oculofaciocardiodental syndrome: a rare case and review of the literature.
@en
P2093
P2860
P356
P1476
Oculofaciocardiodental syndrome: a rare case and review of the literature.
@en
P2093
Amirparviz Davoody
Ernst J Reichenberger
Flavio Uribe
I-Ping Chen
Ravindra Nanda
P2860
P304
P356
10.1597/10-256
P407
P577
2011-07-08T00:00:00Z