Disease: Ectrodactyly
- A case of 12p13.2 heterozygous gene deletion syndrome: congenital thrombocytopenia, ectrodactyly, and tooth deformities
- A Case of Fibular Aplasia-Tibial Campomelia-Oligosyndactyly (FATCO) Syndrome Associated With Split Hand/Foot Syndrome With Long Bone Deficiency (SHFLD) and Review of the Literature
- A case report of Gollop-Wolfgang complex in 12 years old boy
- 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 complex structural variant near <em>SOX3</em> causes X-linked split-hand/foot malformation
- 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 genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus
- A neonate with Klippel-Trénaunay syndrome: a case report
- A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?
- A novel de novo TP63 mutation in whole-exome sequencing of a Syrian family with Oral cleft and ectrodactyly
- A rare case of limb deficiency syndrome: Gollop WolfGang syndrome
- A Rare Case Report of Split Hand and Foot Malformation
- 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>
- Amniotic Band Syndrome with Ectrodactyly-Two Cases
- An Unusual Presentation of Bilateral Split Hand-Foot Malformation (SHFM) in Family: A Tale of Two Generations
- Analysis and pharmacological modulation of senescence in human epithelial stem cells
- Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda
- BHLHA9 homozygous duplication in a consanguineous family: A challenge for genetic counseling
- Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney
- Childbirth and motherhood in women with motor disability due to a rare condition: an exploratory study
- Cleft foot: A case report and review of literature
- Cleft Hand
- Cleft Hand
- Cleft Lip and Palate in Ectodermal Dysplasia
- Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia
- Depiction of ectrodactyly, sirenomelia and cyclopia in a figure by Hokusai
- Dermolipoma in a case of split hand/foot malformation: A report of a novel ophthalmic presentation in a rare disease
- Developmental glaucoma in a patient of ectrodactyly-ectodermal dysplasia
- Digital Transfer for Hand Reconstruction in Cleft Hand and Foot Differences
- Dynamic correction of ulnar claw hand deformity with a simple insertion into the lumbrical muscle
- Ectodermal dysplasia and cholesteatoma: A cross-sectional analysis of otologic issues
- Ectrodactyly Ectodermal Dysplasia Cleft Lip (EEC) Syndrome
- Ectrodactyly with Polydactyly in a Dog-Case Description and Description of Surgical Therapy with Resection and Fusion Podoplasty
- Ectrodactyly-Ectodermal Dysplasia Clefting Syndrome: A Case Report of Its Dental Management with 2 Years Follow-Up
- 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-lobster claw deformity
- EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report
- Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of <em>FGFR1</em>
- Expression of DLX6 Gene in Mandibular Deficiency (Retrognathic Mandible): A Randomized Clinical and Genetic Study
- Fatty filum terminale and low-lying conus medullaris in Gollop-Wolfgang complex: a case report and review of literature
- Four Unusual Cases of Congenital Forelimb Malformations in Dogs
- From the Luttrell Psalter to the Lobster Boy: Split hand and foot awaken many facets of human nature
- Functionality Assessment of Patients With Cleft Hands
- Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies
- Genome sequencing in families with congenital limb malformations
- Genotype-phenotype correlations of UBA2 mutations in patients with ectrodactyly
- Gollop-Wolfgang Complex Is Associated with a Monoallelic Variation in <em>WNT11</em>
- Gollop-Wolfgang Complex: Clinical and Imaging Implications
- 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
- Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome
- Isoform-Specific Roles of Mutant p63 in Human Diseases
- Lacrimal Drainage Anomalies in Goldenhar, Rubinstein-Taybi, and Ectodermal-Ectrodactyly-Clefting Syndromes
- Maxillomandibular Fusion Along with Fusion of Dorsal Surface of the Tongue to the Hard Palate-A Case Report
- Medical findings and congenital anomalies in Vermeer's paintings
- Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling
- Mosaicism in Hartsfield syndrome
- Newborn Male With Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome: A New Case Report Putting the Condition Under Spotlight
- Nonsyndromic Split-Hand/Foot Malformation: Recent Classification
- Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disorders
- Novel phenotype of syndromic premature ovarian insufficiency associated with TP63 molecular defect
- 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 Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report
- Oral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review
- Osteogenesis Imperfecta and Split Foot Malformation due to 7q21.2q21.3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature
- Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant
- p63 in corneal and epidermal differentiation
- Peripheral giant cell granuloma in a child with ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome: a case report
- PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation
- Pre-natal and post-natal diagnosis of congenital upper limb differences: The first 3 years of the Australian Hand Difference Register
- Prenatal diagnosis of Hartsfield syndrome with a novel genetic variant
- Prenatal diagnosis of Klippel-Trenaunay syndrome: Series of four cases and review of the literature
- 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
- Rare association of trisomy 13 with ectrodactyly and congenital diaphragmatic hernia
- Sequence Variants in the <em>WNT10B</em> and <em>TP63</em> Genes Underlying Isolated Split-Hand/Split-Foot Malformation
- Sequence Variants in the <em>WNT10B</em> Underlying Non-Syndromic Split-Hand/Foot Malformation
- SHFLD3 phenotypes caused by 17p13.3 triplication/ duplication encompassing Fingerin (BHLHA9) invariably
- Solitary Median Maxillary Central Incisor in Hartsfield Syndrome: A Case Report
- Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the <em>DLX5/6</em> Genes
- Split-hand/foot malformation 3 resulting from microduplications in 10q24 region in five patients from India
- Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review
- Surgical Ectrodactyly Repair Using Limb-lengthening and Bone Tissue Engineering Techniques in a Toy Dog Breed
- Surgical Treatment of Congenital Cleft Foot - Case Study and Literature Review
- Surgical Treatment of Ulnar Cleft Hand with All Fingers - A Report of Two Patients
- The first reported case of <em>CDH3</em>-related hypotrichosis with juvenile macular dystrophy from Jordan: a case report
- The power of zebrafish models for understanding the co-occurrence of craniofacial and limb disorders
- The prenatal diagnosis and genetic counseling of chromosomal micro-duplication on 10q24.3 in a fetus: A case report and a brief review of the literature
- 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
- Treatment of Cleft Foot Deformity using Fish Mouth Incision and Suture-Button in Paediatric Foot: A case report
- UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly
- Ulnocarpal arthrodesis as a new treatment for ectrodactyly in a dog and a cat
- Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report