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Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling

Thuy-Linh Le, Yunia Sribudiani, Xiaomin Dong, Céline Huber, Chelsea Kois, Geneviève Baujat, Christopher T. Gordon, Valerie Mayne, Louise Galmiche, Valérie Serre, Nicolas Goudin, Mohammed Zarhrate, Christine Bôle‐Feysot, Cécile Masson, Patrick Nitschké, Frans W. Verheijen, Lynn Pais, Anna Pelet, Simon Sadedin, John Pugh, Natasha Shur, Susan M. White, Salima El Chehadeh, John Christodoulou, Valérie Cormier‐Daire, Robert M.W. Hofstra, Stanislas Lyonnet, Tiong Yang Tan, Tania Attié‐Bitach, Wilhelmina S. Kerstjens‐Frederikse, Jeanne Amiel, Sophie Thomas

2020The American Journal of Human Genetics35 citationsDOIOpen Access PDF

Topics & Concepts

SmoothenedHedgehogCiliumBiologyGLI2Hedgehog signaling pathwayCiliogenesisPatchedSonic hedgehogGLI3PolydactylySignal transductionCell biologyGeneticsTranscription factorRepressorGeneHedgehog Signaling Pathway StudiesGenetic and Kidney Cyst DiseasesEpigenetics and DNA Methylation
Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling | Litcius