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Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling

Altered Wnt SignalingTranscriptional RegulationDevelopmental BiologyMendelian DisorderBiallelic VariantsGenetic DisorderGeneticsLimb MalformationsPathologyMolecular GeneticsDisease Gene IdentificationMedicine