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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 (Cx...

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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 2 Sept 2026. Prepared record publication-18553552-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 9 closest

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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