Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome
Guojian Wang, Xiaohong Li, Xue Gao, Yu Su, Mingyu Han, Bo Gao, Chang Guo, Dongyang Kang, Shasha Huang, Yongyi Yuan, Pu Dai
Topics & Concepts
Waardenburg syndromeProbandBiologyGeneticsHearing lossMicrophthalmia-associated transcription factorPAX3GenotypeGenotype-phenotype distinctionPhenotypeMutationMedicineAudiologyGeneTranscription factormelanin and skin pigmentationRNA regulation and diseaseCancer-related molecular mechanisms research