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Last Updated: 02/24/2026
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Found 134 publications
Malformation Pattern and Molecular Findings in the FGFR1-Related Hartsfield Syndrome Phenotype.
Journal: Medical sciences (Basel, Switzerland)
Published: July 29, 2025
Midline defect with corpus callosum agenesis, vermian hypoplasia and median cleft lip palate.
Journal: Case reports in perinatal medicine
Published: October 19, 2024
Identification of a Novel TP63 Variant in a Chinese Patient with Orofacial Clefts and Ectrodactyly: Case Report and Literature Review.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: May 09, 2024
Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia.
Journal: Children (Basel, Switzerland)
Published: September 28, 2023
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
Journal: Orvosi hetilap
Published: August 14, 2023
A newborn with ectrodactyly, tetralogy of Fallot, esophageal atresia, hypospadias and TP63 gene mutation: A new type of EEC Syndrome?
Journal: Journal of neonatal-perinatal medicine
Published: May 14, 2023
Absent meibomian glands and cone dystrophy in ADULT syndrome: identification by whole exome sequencing of pathogenic variants in two causal genes TP63 and CNGB3.
Journal: Ophthalmic genetics
Published: May 09, 2023
A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.
Journal: European journal of medical genetics
Published: January 31, 2023
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.
Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
Published: September 22, 2022
Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.
Journal: Frontiers in genetics
Published: July 24, 2022
Oral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review.
Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
Published: April 15, 2022
Last Updated: 02/24/2026