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UnknownVariants in <i>WASHC3</i>, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism.
Not available
S-EPMC11932664 | biostudies-literature
UnknownFunctional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
Not available
S-EPMC4477441 | biostudies-literature
UnknownPURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Not available
S-EPMC5800346 | biostudies-literature
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