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Clinical and genetic characteristics of 100 consecutive patients with Birt-Hogg-Dubé syndrome in Eastern Chinese region.

Orphanet journal of rare diseases - 19 Sept 2024

Hu Daiju, Wang Rui, Liu Jinli, Chen Xianmeng, Jiang Xianliang, Xiao Jun, Ryu Jay H, Hu Xiaowen

Abstract excerpt

BACKGROUND: Although an increasing number of patients with Birt-Hogg-Dubé syndrome (BHD) are being recognized in China, clinical and genetic characteristics are not well-defined. In addition, revised diagnostic criteria for the Chinese population was proposed in 2023, we aimed to explore their utility in clinical practice at a rare lung disease center. METHODS: We retrospectively analyzed the data of 100...

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Identifiers

PMID: 39300538
DOI: 10.1186/s13023-024-03360-1
PMCID: PMC11414263

Genes

FLCN

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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