• 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&gt;A (p.Arg266Gln) Pathogenic Variant in the <em>TP63</em> 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 &gt; 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 de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly
• A novel dominant-negative FGFR1 variant causes Hartsfield syndrome by deregulating RAS/ERK1/2 pathway
• A novel mutation (c.1010G&gt;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
• Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes <em>TP63</em> and <em>CNGB3</em>
• 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
• Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
• 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
• Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function
• Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
• Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report
• Dental management of Rapp-Hodgkin syndrome associated with oral cleft and hypodontia
• Detection of gonadal mosaicism in Hartsfield syndrome by next generation sequencing
• Developmental glaucoma in a patient of ectrodactyly-ectodermal dysplasia
• 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
• Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome
• Ectodermal dysplasia and cholesteatoma: A cross-sectional analysis of otologic issues
• Ectodermal dysplasias: the p63 tail
• Ectrodactyly ectodermal dysplasia clefting (EEC) syndrome: a rare cause of congenital lacrimal anomalies
• Ectrodactyly ectodermal dysplasia-cleft lip/palate syndrome: a case report
• 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, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination
• EEC syndrome with a de novo mutation (c.953g &gt; 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
• Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome
• Expanding the phenotypic spectrum of TP63-related disorders including the first set of monozygotic twins
• Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations
• FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly
• Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome
• 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
• Hartsfield syndrome associated with a novel heterozygous missense mutation in FGFR1 and incorporating tumoral calcinosis
• 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
• 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
• Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate?
• Isoform-Specific Roles of Mutant p63 in Human Diseases
• Limited ectrodactyly, ectodermal dysplasia and cleft lip-palate syndrome with a p63 mutation, associated with linear and whorled naevoid hypermelanosis
• Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome
• Mosaicism in Hartsfield syndrome
• Mutant p63 Affects Epidermal Cell Identity through Rewiring the Enhancer Landscape
• Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism
• Novel heterozygous mutation in the extracellular domain of <em>FGFR1</em> associated with Hartsfield syndrome
• Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders
• Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia
• Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect
• Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome
• Ocular Manifestations in Patients Affected by p63-Associated Disorders: Ectrodactyly-Ectodermal Dysplasia-Clefting (EEC) and Ankyloblepharon-Ectodermal Defects-Cleft Lip Palate (AEC) Syndromes
• 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
• Otorhinolaryngologic manifestations of Hartsfield syndrome: Case series and review of literature
• 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
• Possible association between acetazolamide administration during pregnancy and multiple congenital malformations
• Prenatal diagnosis of bilateral ectrodactyly and radial agenesis associated with trisomy 10 mosaicism
• Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft (EEC) syndrome in a Chinese woman with a TP63 mutation
• Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant
• Prevalence rates for ectodermal dysplasia syndromes
• 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
• Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report
• Split Hand / Foot Malformation Syndrome with Cerebral Degeneration
• Sweating ability of patients with p63-associated syndromes
• The Use of Variant Maps to Explore Domain-Specific Mutations of FGFR1
• 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 interesting cases of EEC syndrome