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Article

Complex chromosomal rearrangements causing Langer-Giedion syndrome atypical phenotype: genotype-phenotype correlation and literature review.

American journal of medical genetics. Part A - 1 Mar 2014

Cappuccio Gerarda, Genesio Rita, Ronga Valentina, Casertano Alberto, Izzo Antonella, Riccio Maria Pia, Bravaccio Carmela, Salerno Maria Carolina, Nitsch Lucio, Andria Generoso, Melis Daniela

Abstract excerpt

Langer-Giedion syndrome (LGS) is caused by a deletion of chromosome 8q23.3-q24.11. The LGS clinical spectrum includes intellectual disability (ID), short stature, microcephaly, facial dysmorphisms, exostoses. We describe a 4-year-old girl with ID, short stature, microcephaly, distinctive facial phenotype, skeletal signs (exostoses on the left fibula, coccyx agenesis, stubby and dysmorphic sphenoid bone,...

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Identifiers

PMID: 24357330
DOI: 10.1002/ajmg.a.36326

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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