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[Clinical Characteristics and Genetic Analysis of Klippel-Feil Syndrome].

Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae - 28 Feb 2021

Li Zi Quan, Geng Mo Zhao, Zhao Sen, Wu Zhi Hong, Zhang Jian Guo, Wu Nan, Wang Yi Peng

Abstract excerpt

Objective To summarize clinical characteristics and investigate possible pathogenic gene of Klippel-Feil syndrome(KFS)by the self-designed multigene panel sequencing,so as to decipher the molecular basis for early diagnosis and targeted therapy.Methods From January 2015 to December 2018,we consecutively recruited 25 patients who were diagnosed with KFS in Peking Union Medical College Hospital.The demographic...

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PMID: 33663658
DOI: 10.3881/j.issn.1000-503X.12629

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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