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Article

Clinical cases series and pathogenesis of Lamb-Shaffer syndrome in China.

Orphanet journal of rare diseases - 29 Jul 2024

Lian Ruofei, Wu Gongao, Xu Falin, Zhao Shichao, Li Mengchun, Wang Haiyan, Jia Tianming, Dong Yan

Abstract excerpt

BACKGROUND: Lamb-Shaffer syndrome (LAMSHF, OMIM: 616803) is a rare neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, which is attributed to haploinsufficiency by heterozygous variants of SOX5 gene (SRY-Box Transcription Factor 5, HGNC: 11201) on chromosome 12p12. A total of 113 cases have been reported in the world, however, only 3 cases have...

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Identifiers

PMID: 39075495
DOI: 10.1186/s13023-024-03279-7
PMCID: PMC11285261

Genes

SOX5
SRY

Variants

Provenance

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