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

Q: What does this research mean for the field?

A novel SOX5 variant is associated with Lamb-Shaffer syndrome in a Chinese adolescent. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

Jingting Xu; Xiao Ping Song; Linghui Zeng; ChaoChun Zou

doi:10.1097/md.0000000000047820

March 6, 2026

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

View Full Paper

Ask AI

Bookmark

Share

Key Points

To report a novel SOX5 variant associated with Lamb-Shaffer syndrome and emphasize the need for genetic confirmation in neurodevelopmental cases.
Observed genetic characteristics of a Chinese adolescent with unexplained neurodevelopmental features.
Identified a novel SOX5 variant through genetic testing.
Reviewed clinical management approaches based on genetic findings.
Identified a specific SOX5 variant linked to Lamb-Shaffer syndrome.
Demonstrated the clinical significance of genetic confirmation for appropriate management.
Highlighted the potential to avoid unnecessary interventions in the absence of a genetic diagnosis.

Implication

Case report highlights genetic confirmation for managing unexplained neurodevelopmental features in adolescents, suggesting clinical importance.

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Xu et al. (2026) studied this question.

synapsesocial.com/papers/69ada8cfbc08abd80d5bc1f6 https://doi.org/10.1097/md.0000000000047820

View Full Paper

Ask AI

Bookmark

Share

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

Key Points

Implication

Discussion

Cite This Study

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

Key Points

Implication

Discussion

Cite This Study

Keep reading

Keep reading