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Article

Further case of microdeletion of 8q24 with phenotype overlapping Langer-Giedion without TRPS1 deletion.

American journal of medical genetics. Part A - 15 Jun 2008

McBrien Jacqueline, Crolla John Anthony, Huang Shuwen, Kelleher Jerry, Gleeson John, Lynch Sally Ann

Abstract excerpt

Langer-Giedion syndrome results from a microdeletion at 8q24.1 encompassing the EXT1 and the adjacent TRPS1 gene. We report on a boy with an oligo array-cgh characterized small microdeletion involving EXT1 alone but with some features of Langer-Giedion syndrome suggesting a functional disturbance...

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Source

Identifiers

PMID: 18478595
DOI: 10.1002/ajmg.a.32347

Genes

TRPS1
EXT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18478595-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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