Disease: Ectrodactyly dominant form
- A familial syndromal form of omphalocele
- A novel H208D TP63 mutation in a familial case of ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome without clefting
- ADULT syndrome due to an R243W mutation in TP63
- Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development
- Dilemmas in counselling: the EEC syndrome
- Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
- Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)
- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression
- Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature
- Ectrodactyly, ectodermal dysplasia, and cleft palate syndrome: report of a case with generalized telangiectasias
- Ectrodactyly/split hand feet malformation
- Familial split hand/split foot long bone deficiency does not segregate with markers linked to the SHFD1 locus in 7q21.3-q22.1
- Genetic characteristics of the "EEC" syndrome (ectrodactyly, ectodermal dysplasis, cheilognathopalatoschisis)
- Lobster-claw hand: a manifestation of EEC syndrome
- Ocular manifestations in a father and son with EEC syndrome
- Physical mapping of the split hand/split foot locus on chromosome 7 and implication in syndromic ectrodactyly
- Probable new syndrome in a Mexican family with congenital palmar polyonychia and postaxial limb defects
- Split hand/split foot malformation, deafness, and mental retardation with a complex cytogenetic rearrangement involving 7q21.3
- The Rapp-Hodgkin syndrome results from mutations of the TP63 gene