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Article

Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.

American journal of medical genetics. Part A - 1 Jun 2017

Carmona Susana, da Luz Freitas Maria, Froufe Hugo, Simões Maria José, Sampaio Maria João, Silva Eduardo D, Egas Conceição

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Source

Identifiers

PMID: 28432732
DOI: 10.1002/ajmg.a.38234

Genes

FOXC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.PMID 28432732Read ↗

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A novel mutation in FOXN1 resulting in SCID: a case report and literature review.Semantic proximity Read ↗

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A novel de novo pathogenic mutation in the CACNA1A gene.Semantic proximity Read ↗

A family with Axenfeld–Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 geneSemantic proximity Read ↗

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Novel c.300_301delinsT mutation in PITX2 in a Korean family with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

A novel mutation in the FOXC1 gene in a family with Axenfeld-Rieger syndrome and Peters' anomaly.Semantic proximity Read ↗

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