Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders.
Jinglei ZhengHaochen LiuYuan ZhanYang LiuSing-Wai WongTao CaiHailan FengDong HanPublished in: Molecular genetics & genomic medicine (2019)
We reported that the cubitus valgus deformity in patients with EEC and severe taurodontism in a patient with AEC had not been mentioned previously. Our study expands the phenotypic spectrum of EEC and AEC syndrome.
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