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Article

Filippi syndrome: further clinical characterization.

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

Battaglia Agatino, Filippi Tiziana, Pusceddu Silvia, Williams Charles A

Abstract excerpt

We report on a child with Filippi syndrome who shows syndactyly of fingers and toes, severe pre- and post-natal growth retardation, postnatal microcephaly, epilepsy, and severe mental retardation with speech impairment. Standard cytogenetics, CGH microarray, and molecular analysis of the GJA1 (Cx43) gene coding region were normal. We review the literature and provide additional information delineating the genetic...

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Source

Identifiers

PMID: 18553552
DOI: 10.1002/ajmg.a.32400

Genes

GJA1

Provenance

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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Filippi syndrome: further clinical characterization.PMID 18553552Read ↗

Expanding the phenotype of Filippi syndrome: a report of three cases.Semantic proximity Read ↗

Filippi syndrome: Three new families suggest that urinary system abnormalities may belong to clinical spectrum of the disease.Semantic proximity Read ↗

Craniodigital syndromes: report of a child with Filippi syndrome and discussion of differential diagnosis.Semantic proximity Read ↗

A 2q24.3q31.1 microdeletion found in a patient with Filippi-like syndrome phenotype: a case report.Semantic proximity Read ↗

[Research progress of genetic study on Filippi syndrome].Semantic proximity Read ↗

CKAP2L mutation confirms the diagnosis of Filippi syndrome.Semantic proximity Read ↗

A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13.Semantic proximity Read ↗

Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.Semantic proximity Read ↗

Mutations in PAX1 may be associated with Klippel–Feil syndromeSemantic proximity Read ↗

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