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Aug 2026

PTPN11 variants in four Chinese patients: a case series and genotype-phenotype analysis.

Noonan syndrome (NS) and LEOPARD syndrome (LS) are well-characterized RAS/MAPK pathway-related disorders with strong genotype-phenotype correlations. Most cases of both syndromes are caused by variants in the PTPN11 gene, with specific sites predisposing to either NS or LS. The association between PTPN11 and granular c...

Piao-Ping Zhao, Qin Zeng, Q. Cao et al. · 0 citations

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