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Case series of congenital pseudarthrosis of the tibia unfulfilling neurofibromatosis type 1 diagnosis: 21% with somatic NF1 haploinsufficiency in the periosteum
Zheng, Yu; Zhu, Guanghui; Liu, Yaoxi; Zhao, Weihua; Yang, Yongjia
; et al.
Human Genetics; Heidelberg Vol. 141, Iss. 8, (Aug 2022): 1371-1383.
DOI:10.1007/s00439-021-02429-2
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