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Paper Details

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Hum Genet
27
2015
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
Author NameAffiliation
Marta RomaniIRCCS Casa Sollievo della Sofferenza
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