Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

Autor:	Bonnard, Carine, Shboul, Mohammad, Tonekaboni, Seyed Hassan, Ng, Alvin Yu Jin, Tohari, Sumanty, Ghosh, Kakaly, Lai, Angeline, Lim, Jiin Ying, Tan, Ene Choo, Devisme, Louise, Stichelbout, Morgane, Alkindi, Adila, Banu, Nazreen, Yüksel, Zafer, Ghoumid, Jamal, Elkhartoufi, Nadia, Boutaud, Lucile, Micalizzi, Alessia, Brett, Maggie Siewyan, Venkatesh, Byrappa, Valente, Enza Maria, Attié-Bitach, Tania, Reversade, Bruno, Kariminejad, Ariana
Zdroj:	In European Journal of Medical Genetics October 2018 61(10):585-595
Databáze:	ScienceDirect
Externí odkaz:	Zobrazit plný text záznamu Full Text from ScienceDirect