Publications:

Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.

Orphanet Journal Of Rare Diseases

Zhu, Guanghui G; Zheng, Yu Y; Liu, Yaoxi Y; Yan, An A; Hu, Zhengmao Z; Yang, Yongjia Y; Xiang, Shiting S; Li, Liping L; Chen, Weijian W; Peng, Yu Y; Zhong, Nanbert N; Mei, Haibo H

Publication Date: 2019-09-18

Variant appearance in text: NF1: 4756_4772del; Ala1586Tyrfs*30

PubMed Link: 31533797

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1196.pdf

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