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Article

Exclusion of PITX2 mutations as a major cause of CHARGE association.

American journal of medical genetics - 22 Jul 2002

Martin Donna M, Probst Frank J, Fox Sharon E, Schimmenti Lisa A, Semina Elena V, Hefner Margaret A, Belmont John W, Camper Sally A

Abstract excerpt

CHARGE is a nonrandom association of ocular coloboma, congenital heart defects, atresia of the choanae, retarded growth and development, genital hypoplasia, and ear anomalies including deafness. The cause of CHARGE remains unknown; however, there is considerable evidence of an underlying genetic basis, as discussed by Tellier et al. [1996: Clin Genet 50:548-550; 1998: Am J Med Genet 76:402-409] and by Martin et...

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Source

Identifiers

PMID: 12124729
DOI: 10.1002/ajmg.10473

Genes

PITX2

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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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exclusion of PITX2 mutations as a major cause of CHARGE association.PMID 12124729Read ↗

Expression of thePAX2 gene in human embryos and exclusion in the CHARGE syndromeSemantic proximity Read ↗

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

<i>SEMA3E</i> mutation in a patient with CHARGE syndromeSemantic proximity Read ↗

More Clinical Overlap between 22q11.2 Deletion Syndrome and CHARGE Syndrome than Often AnticipatedSemantic proximity Read ↗

PITX2 deficiency and associated human disease: insights from the zebrafish model.Semantic proximity Read ↗

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

CHARGE syndrome in nine patients from China.Semantic proximity Read ↗

Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities.Semantic proximity Read ↗

Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA).Semantic proximity Read ↗

Heterozygous mutations of OTX2 cause severe ocular malformations.Semantic proximity Read ↗

Identification of a novel frameshift mutation in PITX2 gene in a Chinese family with Axenfeld-Rieger syndrome.Semantic proximity Read ↗

Absence of PITX3 mutation in a Tunisian family with congenital cataract and mental retardation.Semantic proximity Read ↗

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