Associated Papers
INTU-related oral-facial-digital syndrome XVII: Clinical spectrum of a rare disorder.
Yakar O et al.
American Journal of Medical Genetics. Part A, 2022
INTU-related oral-facial-digital syndrome type VI: A confirmatory report.
Bruel AL et al.
Clinical 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
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Toriyama M et al.
Nature Genetics, 2016
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