Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome
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author: Tania Attié-Bitach Zafer Yuksel Alessia Micalizzi Enza Maria Valente Ariana Kariminejad Jamal Ghoumid Byrappa Venkatesh |
| Publication date | March 30, 2018 |
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