Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome-Reference-Cited by-同舟云学术

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

Published:2018-10 Issue:10 Volume:61 Page:585-595
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Bonnard Carine,Shboul Mohammad,Tonekaboni Seyed Hassan,Ng Alvin Yu Jin,Tohari Sumanty,Ghosh Kakaly,Lai Angeline,Lim Jiin Ying,Tan Ene Choo^ORCID,Devisme Louise,Stichelbout Morgane,Alkindi Adila,Banu Nazreen^ORCID,Yüksel Zafer^ORCID,Ghoumid Jamal^ORCID,Elkhartoufi Nadia,Boutaud Lucile,Micalizzi Alessia,Brett Maggie Siewyan,Venkatesh Byrappa,Valente Enza Maria^ORCID,Attié-Bitach Tania,Reversade Bruno,Kariminejad Ariana^ORCID

Funder

Agency for Science, Technology and Research (A*STAR)

National Medical Research Council, Ministry of Health

European Research Council

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference27 articles.

1. Molecular characterization of Joubert syndrome in Saudi Arabia;Alazami;Hum. Mutat.,2012

2. Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome;Alby;Am. J. Hum. Genet.,2015

3. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity;Bachmann-Gagescu;J. Med. Genet.,2015