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Article

A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.

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

Seoighe Deirdre Máire, Gadancheva Veselina, Regan Regina, McDaid Jennifer, Brenner Clare, Ennis Sean, Betts David Richard, Eadie Patricia Anne, Lynch Sally Ann

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Source

Identifiers

PMID: 25124102
DOI: 10.1002/ajmg.a.36712

Genes

PITX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A chromosomal 5q31.1 gain involving PITX1 causes Liebenberg syndrome.PMID 25124102Read ↗

Deletions in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactylySemantic proximity Read ↗

The Liebenberg syndrome: in depth analysis of the original family.Semantic proximity Read ↗

PITX2 loss-of-function mutation contributes to tetralogy of FallotSemantic proximity Read ↗

Complex genomic rearrangement with deletion of PITX2 in a Chinese family with Axenfeld-Rieger syndrome: A case report and literature review.Semantic proximity Read ↗

Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics.Semantic proximity Read ↗

Deletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating<i>PITX2</i>from a conserved enhancer locusSemantic proximity Read ↗

Novel PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

The TALE never ends: A comprehensive overview of the role of PBX1, a TALE transcription factor, in human developmental defects.Semantic proximity Read ↗

The Pit-1 transcription factor gene is a candidate for the murine Snell dwarf mutationSemantic proximity Read ↗

Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family.Semantic proximity Read ↗

A PITX2 splice-site mutation in a family with Axenfeld-Rieger syndrome leads to decreased expression of nuclear PITX2 protein.Semantic proximity Read ↗

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