Top Tweets for #rab34
#RAB34 is a new AR #MorbidGene for Oral-facial-digital syndrome (OFDS) / a ciliopathy. Phenotype: facial dysmorphism, bilateral cleft lip/palate, lobulated tongue, abnormal frenulum & bilateral poly(syn)dactyly of feet/hands. @DavidBreslowLab @hmg_journal π π
Excited to share results of collaborative project identifying RAB34 as causative gene for a new OFD-type ciliopathy: https://t.co/ri8rCctJwD While many Rab's have been linked to ciliogenesis, RAB34 is the first responsible for a disorder caused by impaired cilium assembly. (1/3)
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