Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome - Concepedia

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Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

DOI Full Paper Access

92

Citations

17

References

2015

Year

Caroline Alby, Kevin Piquand, Céline Huber, André Mégarbané, Amale Ichkou, Marine Legendre, Fanny Pelluard, Ferechté Encha-Ravazi, Georges Abi Tayeh, Bettina Bessières,

The American Journal of Human Genetics

Molecular Diagnostic TechniquesMendelian DisorderGenetic DisorderShort-rib Polydactyly SyndromeGeneticsPathogenesisPathologyHydrolethalus PhenotypeMolecular GeneticsDisease Gene IdentificationGenomicsMedicine

References

	Year	Citations

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