Disease: Eec syndrome without cleft lip palate
- A complex rearrangement between <em>APC</em> and <em>TP63</em> associated with familial adenomatous polyposis identified by multimodal genomic analysis: a case report
- A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the <em>TP63</em> Gene
- A Family with EEC Syndrome in the Son and ADULT Syndrome in His Father Caused by the c.797G>A (p.Arg266Gln) Pathogenic Variant in the TP63 Gene
- A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?
- A newborn with overlapping features of AEC and EEC syndromes
- A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome
- A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome
- A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia
- A recurrent TP63 mutation causing EEC3 and Rapp-Hodgkin syndromes
- A spectrum of TP63-related disorders with eight affected individuals in five unrelated families
- A sporadic case of oligosymptomatic ectrodactyly-ectodermal dysplasia-clefting syndrome
- ADULT syndrome due to an R243W mutation in TP63
- Allele-specific silencing of EEC p63 mutant R304W restores p63 transcriptional activity
- Amino-terminal residues of ΔNp63, mutated in ectodermal dysplasia, are required for its transcriptional activity
- An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome
- Analysis and pharmacological modulation of senescence in human epithelial stem cells
- Analysis of large phenotypic variability of EEC and SHFM4 syndromes caused by K193E mutation of the TP63 gene
- APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations
- Bilateral congenital lacrimal fistulas in an adult as part of ectrodactyly-ectodermal dysplasia-clefting syndrome: A rare anomaly
- Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney
- Cleft Lip and Palate in Ectodermal Dysplasia
- Congenital atrichia and hypotrichosis
- Corneal changes in ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome: case series and literature review
- Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function
- Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome
- Differential altered stability and transcriptional activity of ΔNp63 mutants in distinct ectodermal dysplasias
- Differentially Expressed Genes in EEC and LMS Syndromes
- DLX5, FGF8 and the Pin1 isomerase control ΔNp63α protein stability during limb development: a regulatory loop at the basis of the SHFM and EEC congenital malformations
- Ectodermal dysplasias: the p63 tail
- Ectrodactyly ectodermal dysplasia clefting (EEC) syndrome: a rare cause of congenital lacrimal anomalies
- Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome)
- Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome
- Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene
- Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome: Ocular Findings and Surgical Treatment
- Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
- Ectrodactyly-ectodermal dysplasia-clefting syndrome causing blindness in a child
- Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis
- Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report
- Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome: A case report of "Incomplete syndrome"
- Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome)
- Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination
- EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report
- EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report
- EEC syndrome-like phenotype in a patient with an IRF6 mutation
- EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences
- EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report
- Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)
- Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome
- Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations
- Familial ectrodactyly-ectodermal dysplasia-clefting syndrome
- Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome
- Genetic Factors in Selected Complex Congenital Malformations with Cleft Defect
- Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies
- Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome
- Hypothalamo-pituitary insufficiency associated with ectrodactyly-ectodermal dysplasia-clefting syndrome
- Identification of a de novo variant in CHUK in a patient with an EEC/AEC syndrome-like phenotype and hypogammaglobulinemia
- Identification of a Novel TP63 Variant in a Chinese Patient with Orofacial Clefts and Ectrodactyly: Case Report and Literature Review
- Identification of a Tp63 gene variant in an abortus with Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate syndrome by whole-exome sequencing
- Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET
- In the Shadows of Rarity: A Case Report of Syndromic Cleft Lip and Palate!
- Induced pluripotent stem cells line (UNIPDi003-A) from a patient affected by EEC syndrome carrying the R279H mutation in TP63 gene
- Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome
- Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome
- Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63
- Isoform-Specific Roles of Mutant p63 in Human Diseases
- Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations
- Lobster claw syndrome
- Mutant p63 Affects Epidermal Cell Identity through Rewiring the Enhancer Landscape
- Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia
- Ocular manifestations of ectodermal dysplasia
- Ocular surface involvements in ectrodactyly-ectodermal dysplasia-cleft syndrome
- Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome
- Oral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review
- Oral Mucosa-Derived Induced Pluripotent Stem Cells from Patients with Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
- Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant
- p63 cooperates with CTCF to modulate chromatin architecture in skin keratinocytes
- p63 in corneal and epidermal differentiation
- Perioral lesions in ectrodactyly, ectodermal dysplasia, clefting syndrome
- Peripheral giant cell granuloma in a child with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a case report
- Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
- Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft (EEC) syndrome in a Chinese woman with a TP63 mutation
- Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound
- Prosthetic rehabilitation of a patient with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome through a hybrid workflow: A case report with 2-year follow-up
- Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation
- Retinal tear presenting in a patient with ectrodactyly ectodermal dysplasia
- SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?
- Single-cell RNA-seq identifies a reversible mesodermal activation in abnormally specified epithelia of p63 EEC syndrome
- Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome
- Special AT-rich binding protein-2 (SATB2) differentially affects disease-causing p63 mutant proteins
- Split Hand / Foot Malformation Syndrome with Cerebral Degeneration
- Sweating ability of patients with p63-associated syndromes
- The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene
- Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype-phenotype correlation analyses of TP63-related disorders
- TP63-related disorders: two case reports and a brief review of the literature
- Treatment and Management of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome With Scleral Prosthetic Devices
- Treatment of cleft foot deformity with a suture-button construct in the pediatric foot: a case report
- Two case reports with literature review of the EEC syndrome: Clinical presentation and management
- Two interesting cases of EEC syndrome
- Vomer aplasia in a patient carrying a de novo mutation of the TP63 gene (3q27)
- Whole exome sequencing identifies mutations in 10% of patients with familial non-syndromic cleft lip and/or palate in genes mutated in well-known syndromes