Associated Papers
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Prenatal findings in oral-facial-digital syndrome type VI: Report of three cases and literature review.
Dordoni C et al.
Prenatal Diagnosis, 2019
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.
Bonnard C et al.
European Journal of Medical Genetics, 2018
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
Bruel AL et al.
Journal of Medical Genetics, 2017
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
Romani M et al.
Human Genetics, 2015
C5orf42 is the major gene responsible for OFD syndrome type VI.
Lopez E et al.
Human Genetics, 2014
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