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Paper Title
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
PubMed
Paper Journal Title
Hum Genet
Paper Citation Count
27
Paper Publication Year
2015
Bio Mention
C5orf42, JS, Joubert syndrome, OFDVI, Oral-facial-digital syndrome type VI, Oral-facial-digital type VI syndrome, congenital defects, hypothalamic hamartoma, patients, preaxial and mesoaxial polydactyly, tongue hamartomas
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Author Name
Affiliation
Marta Romani
IRCCS Casa Sollievo della Sofferenza
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