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Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants.
Tian W, Huang Y, Sun L, Guo Y, Zhao S, Lin M, Dong X, Zhong W, Yin Y, Chen Z, Zhang N, Zhang Y, Wang L, Lin J, Yan Z, Yang X, Zhao J, Qiu G, Zhang J, Wu Z, Wu N; (Deciphering Disorders Involving Scoliosis, COmorbidities) study group. Tian W, et al. Among authors: zhao j, zhao s. Orphanet J Rare Dis. 2020 Oct 14;15(1):288. doi: 10.1186/s13023-020-01572-9. Orphanet J Rare Dis. 2020. PMID: 33054853 Free PMC article.
[Clinical analysis of 73 cases of macrodactyly].
Wu JH, Tian GL, Zhao JH, Li C, Zhang YL, Pan YW. Wu JH, et al. Zhonghua Wai Ke Za Zhi. 2008 Apr 1;46(7):514-7. Zhonghua Wai Ke Za Zhi. 2008. PMID: 18785561 Chinese.
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