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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...
Kaydedildi:
| Yayımlandı: | Am J Med Genet A |
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| Asıl Yazarlar: | , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2015
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| Konular: | |
| Online Erişim: | 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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