TFAP2A Mutations Result in Branchio-Oculo-Facial Syndrome

Branchio-oculo-facial syndrome (BOFS) is a rare autosomal-dominant cleft palate-craniofacial disorder with variable expressivity. The major features include cutaneous anomalies (cervical, infra- and/or supra-auricular defects, often with dermal thymus), ocular anomalies, characteristic facial appear...

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Bibliographische Detailangaben
Hauptverfasser: Milunsky, Jeff M., Maher, Tom A., Zhao, Geping, Roberts, Amy E., Stalker, Heather J., Zori, Roberto T., Burch, Michelle N., Clemens, Michele, Mulliken, John B., Smith, Rosemarie, Lin, Angela E.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2008
Schlagworte:
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2427243/
https://ncbi.nlm.nih.gov/pubmed/18423521
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.03.005
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