Disease: EEC syndrome
- 19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia-clefting syndrome phenotype
- 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 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 potpourri of pathogenetic pathways in endometrial carcinoma with a focus on Lynch Syndrome
- A spectrum of TP63-related disorders with eight affected individuals in five unrelated families
- 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 microsatellite instability in endometroid carcinoma with deficient mismatch repair
- Anesthetic consideration for a patient with EEC syndrome and cardiac disease
- APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations
- Association of generalized aggressive periodontitis and ectrodactyly-ectodermal dysplasia-cleft syndrome
- 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
- Changes in Driving Behaviors After Concussion in Adolescents
- Cleft Lip and Palate in Ectodermal Dysplasia
- Clinical outcomes of patients with POLE mutated endometrioid endometrial cancer
- Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function
- Differentially Expressed Genes in EEC and LMS Syndromes
- Digital Transfer for Hand Reconstruction in Cleft Hand and Foot Differences
- 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 Cleft Lip (EEC) Syndrome
- 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 presenting with bilateral choanal atresia and rectal stenosis
- Ectrodactyly-ectodermal dysplasia-clefting syndrome. Prenatal prospective ultrasound diagnosis
- 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- 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
- Enteroendocrine Regulation of Nutrient Absorption
- Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)
- Ethanol Extract of <em>Caesalpinia decapetala</em> Inhibits Influenza Virus Infection In Vitro and In Vivo
- 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
- Fertility-preserving treatment outcome in endometrial cancer or atypical hyperplasia patients with polycystic ovary syndrome
- Fertility-sparing treatment for endometrial cancer and atypical endometrial hyperplasia in patients with Lynch Syndrome: Molecular diagnosis after immunohistochemistry of MMR proteins
- Generation of a transgene-free induced pluripotent stem cells line (UNIPDi002-A) from oral mucosa epithelial stem cells carrying the R304Q mutation in TP63 gene
- 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
- Genomic Comparison of Endometrioid Endometrial Carcinoma and Its Precancerous Lesions in Chinese Patients by High-Depth Next Generation Sequencing
- 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
- Identification of novel Lynch syndrome mutations in Chinese patients with endometriod endometrial cancer
- Immune-Mediated Rippling Muscle Disease Associated With Thymoma and Anti-MURC/Cavin-4 Autoantibodies
- Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia-related patients is rescued by the small compound APR-246/PRIMA-1MET
- Improvement of epidermal covering on AEC patients with severe skin erosions by PRIMA-1<sup>MET</sup>/APR-246
- 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
- Lobster claw deformity
- Low Red Blood Cell Count as an Early Indicator for Myometrial Invasion in Women with Endometrioid Endometrial Carcinoma with Metabolic Syndrome
- Molecular classification and clinicopathological features of endometrial carcinoma
- Mutant p63 Affects Epidermal Cell Identity through Rewiring the Enhancer Landscape
- Ocular manifestations of ectodermal dysplasia
- Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report
- 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
- Outcomes of primary powered endoscopic dacryocystorhinostomy in syndromic congenital nasolacrimal duct obstruction
- 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
- 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
- Prognostic-Related Metabolic Score for Survival Prediction in Early-Stage Endometrioid Endometrial Cancer: A Multi-Center and Retrospective Study
- 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
- Quantification of mucosal EEC in jejunum. A comparative study of IBS patients and healthy controls
- Rapid identification of endometrial hyperplasia and endometrial endometrioid cancer in young women
- Retinal tear presenting in a patient with ectrodactyly ectodermal dysplasia
- Serum concentrations of IGF-I/IGF-II as biomarkers of alcohol damage during foetal development and diagnostic markers of Foetal Alcohol Syndrome
- Shiga toxin 2 from enterohemorrhagic Escherichia coli induces reactive glial cells and neurovascular disarrangements including edema and lipid peroxidation in the murine brain hippocampus
- 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
- Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes
- Split Hand / Foot Malformation Syndrome with Cerebral Degeneration
- Spontaneous resolution of nonimmune hydrops fetalis in a fetus with <em>TP63</em> gene mutation and <em>LZTR1</em> gene variants
- Sweating ability of patients with p63-associated syndromes
- The comparison of the effectiveness and safety of drospirone ethinyl estradiol and ethinyl estradiol cyproterone in the treatment of polycystic ovarian syndrome: A protocol for systematic review and meta-analysis
- 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-mutation as a cause of prenatal lethal multicystic dysplastic kidneys
- 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
- Two case reports with literature review of the EEC syndrome: Clinical presentation and management
- Two interesting cases of EEC syndrome