Exome Sequencing Identifies a Homozygous C5orf42 Variant in a Turkish Kindred With Oral-Facial-Digital Syndrome Type VI

Oral-facial-digital syndrome type VI (OFDVI) is a rare ciliopathy in the spectrum of Joubert syndrome (JS) and distinguished from other oral-facial-digital syndromes by metacarpal abnormalities with central polydactyly and by a molar tooth sign on cranial MRI. Additional characteristic features incl...

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Détails bibliographiques
Publié dans:Am J Med Genet A
Auteurs principaux: Bayram, Yavuz, Aydin, Hatip, Gambin, Tomasz, Akdemir, Zeynep Coban, Atik, Mehmed M., Karaca, Ender, Karaman, Ali, Pehlivan, Davut, Jhangiani, Shalini N., Gibbs, Richard A., Lupski, James R.
Format: Artigo
Langue:Inglês
Publié: 2015
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4545386/
https://ncbi.nlm.nih.gov/pubmed/25846457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37092
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