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
Prenatal exome sequencing and chromosomal microarray analysis in fetal structural anomalies in a highly consanguineous population reveals a propensity of ciliopathy genes causing multisystem phenotypes.
Al-Hamed MH et al.
Human Genetics, 2022
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Toriyama M et al.
Nature Genetics, 2016
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