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Article

The EEC syndrome: a literature study

1 Apr 1996

Abstract excerpt

Analysis of 230 published cases of the EEC syndrome revealed that, besides the cardinal symptoms (ectrodactyly, ectodermal dysplasia and clefting), lacrimal tract abnormalities and urogenital abnormalities are part of this syndrome. Mental retardation and various abnormalities and dysmorphisms of the ears and face, reported in EEC syndrome, do not really seem to be part of it. Conductive hearing loss is...

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Identifiers

PMID: 8723561
DOI: 10.1097/00019605-199604000-00003

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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

The EEC syndrome: a literature studyPMID 8723561Read ↗

Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): the clinical variation and prenatal diagnosis.Semantic proximity Read ↗

EEC syndrome: Report on 20 new patients, clinical and genetic considerationsSemantic proximity Read ↗

Twenty-four cases of the EEC syndrome: clinical presentation and management.Semantic proximity Read ↗

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA-binding domain of the TP63 gene and genotype-phenotype correlation.Semantic proximity Read ↗

Ectodermal dysplasias: the p63 tail.Semantic proximity Read ↗

Heterozygous Germline Mutations in the p53 Homolog p63 Are the Cause of EEC SyndromeSemantic proximity Read ↗

Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.Semantic proximity Read ↗

A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?Semantic proximity Read ↗

[From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome].Semantic proximity Read ↗

Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene.Semantic proximity Read ↗

The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene.Semantic proximity Read ↗

Further phenotypic and genetic variation in ADULT syndrome.Semantic proximity Read ↗

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