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Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome |
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Titel: |
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome |
Auteur: |
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 |
Verschenen in: |
European journal of medical genetics |
Paginering: |
Jaargang 61 (2018) nr. 10 pagina's 585-595 |
Jaar: |
2018 |
Inhoud: |
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Uitgever: |
Elsevier Masson SAS |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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