Exome sequencing identifies novel mutations in C5orf42 in patients with Joubert syndrome with oral–facial–digital anomalies

Oral–facial–digital syndrome VI (OFD6 OMIM #277170), also called Varadi–Papp syndrome, is a ciliopathy inherited in an autosomal recessive pattern. Recently, mutations in C5orf42 (OMIM #614571) have been associated with OFD6. OFD6 overlaps with Joubert syndrome and mutations in C5orf42 were describe...

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Detalles Bibliográficos
Autores principales: Wentzensen, Ingrid M, Johnston, Jennifer J, Keppler-Noreuil, Kim, Acrich, Karina, David, Karen, Johnson, Kisha D, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4785546/
https://www.ncbi.nlm.nih.gov/pubmed/27081551
http://dx.doi.org/10.1038/hgv.2015.45

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