Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

TP63 mutation and clefting modifier genes in an EEC syndrome family.

Clinical genetics - 1 Sept 2004

Ray A K, Marazita M L, Pathak R, Beever C L, Cooper M E, Goldstein T, Shaw D F, Field L L

Abstract excerpt

Autosomal dominant EEC syndrome consists of ectrodactyly, ectodermal dysplasia, and cleft lip with or without cleft palate (CL/P). We investigated an EEC kindred with 10 affected persons in three generations in order to map the causative mutation in this family and to map modifier genes that contribute to the expression of facial clefting in the phenotype. DNA from 15 family members was genotyped for 388 genome...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Chromosomes, Human, Pair 14

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 3

Share to Chromosomes, Human, Pair 4

Share to Cleft Lip

Share to Ectodermal Dysplasia

Share to Genes, Dominant

Share to Lod Score

Source

Identifiers

PMID: 15324320
DOI: 10.1111/j.1399-0004.2004.00287.x

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.

Related research

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

Research trail→

Click a neighbor to travelStep 1 · 12 closest

TP63 mutation and clefting modifier genes in an EEC syndrome family.PMID 15324320Read ↗

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 ↗

A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting.Semantic proximity Read ↗

p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation.Semantic proximity Read ↗

Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia.Semantic proximity Read ↗

[Heterozygous TP63 mutation in a Chinese patient with ectrodactyly-ectodermal dysplasia clefting syndrome without clefting].Semantic proximity Read ↗

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

The p63 gene in EEC and other syndromes.Semantic proximity Read ↗

Successful preimplantation genetic testing for a de novo TP63 mutation using direct detection and embryo-based STR haplotyping in EEC syndrome.Semantic proximity Read ↗

Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene.Semantic proximity Read ↗

Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.