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Sponsored Artificial Intelligence: A Modern Approach, Global Edition Artificial Intelligence: A Modern Approach, Global Edition

Author

Hai-Sheng Huang

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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
Sep 2026

Distinct genotype-phenotype patterns in non-syndromic hereditary hypotrichosis: a multicenter Chinese cohort.

BACKGROUND Non-syndromic hereditary hypotrichosis (NSHH) is a genetically heterogeneous disorder characterized by sparse or absent hair growth. Comprehensive genotype-phenotype correlation analyses remain limited, particularly in the Chinese population. OBJECTIVES To define the genetic and phenotypic spectrum of NSHH...

An-Qi Zhao, Qiao-Yu Cao, Han Chen et al. · 0 citations

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