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Article

Lamb-Shaffer syndrome in a Chinese adolescent: A case report.

Medicine - 6 Mar 2026

Xu Jingting, Song Xiao, Zeng Linghui, Zou Chaochun

Abstract excerpt

RATIONALE: Lamb-Shaffer syndrome (LAMSHF) is a rare neurodevelopmental disorder caused by pathogenic variants in the SRY-related high-mobility group box 5 (SOX5) gene. Clinical features are heterogeneous, and novel variants continue to be reported, expanding the genotypic and phenotypic spectrum of the disease. PATIENT CONCERNS: A 15-year-old male presented with short stature, mild intellectual disability,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41790631
DOI: 10.1097/MD.0000000000047820
PMCID: PMC12975261

Genes

SOX5
SRY

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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