Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1

Focal facial dermal dysplasia (FFDD) Type IV is a rare syndrome characterized by facial lesions resembling aplasia cutis in a preauricular distribution along the line of fusion of the maxillary and mandibular prominences. To identify the causative gene(s), exome sequencing was performed in a family...

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Hauptverfasser: Slavotinek, Anne M., Mehrotra, Pavni, Nazarenko, Irina, Tang, Paul Ling-Fung, Lao, Richard, Cameron, Don, Li, Ben, Chu, Catherine, Chou, Chris, Marqueling, Ann L., Yahyavi, Mani, Cordoro, Kelly, Frieden, Ilona, Glaser, Tom, Prescott, Trine, Morren, Marie-Anne, Devriendt, Koen, Kwok, Pui-yan, Petkovich, Martin, Desnick, Robert J.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Oxford University Press 2013
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Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3554199/
https://ncbi.nlm.nih.gov/pubmed/23161670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/dds477
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