Research & Literature

Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function.

Barbaro V, Nasti AA, Del Vecchio C, et al.

Stem cells (Dayton, Ohio) 2016; (34(6)):1588-600 doi:10.1002/stem.2343.

Personalized Stem Cell Therapy to Correct Corneal Defects Due to a Unique Homozygous-Heterozygous Mosaicism of Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome.

Barbaro V, Nasti AA, Raffa P, et al.

Stem cells translational medicine 2016; (5(8)):1098-105 doi:10.5966/sctm.2015-0358.

Allele-specific silencing of EEC p63 mutant R304W restores p63 transcriptional activity.

Novelli F, Lena AM, Panatta E, et al.

Cell death & disease 2016; (7()):e2227 doi:10.1038/cddis.2016.118.

Two case reports with literature review of the EEC syndrome: Clinical presentation and management.

Augello M, Berg BI, Albert Müller A, Schwenzer-Zimmerer K

Case reports in plastic surgery & hand surgery 2015; (2(3-4)):63-6 doi:10.3109/23320885.2015.1086273.

Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.

Enriquez A, Krivanek M, Flöttmann R, et al.

American journal of medical genetics. Part A 2016; (170(9)):2372-6 doi:10.1002/ajmg.a.37816.

Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia.

Monroy-Jaramillo N, Abad-Flores JD, García-Delgado C, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2017; (31(7)):e321-e324 doi:10.1111/jdv.14107.

Genitourinary malformations: an under-recognized feature of ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome.

Hyder Z, Beale V, O'Connor R, Clayton-Smith J

Clinical dysmorphology 2017; (26(2)):78-82 doi:10.1097/MCD.0000000000000172.

Oral health considerations in a patient with oligosymptomatic ectrodactyly-ectodermal dysplasia-cleft syndrome.

Sharma G, Nagpal A

General dentistry 2017; (65(2)):66-69.

Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63.

Otsuki Y, Ueda K, Satoh C, et al.

Plastic and reconstructive surgery. Global open 2016; (4(12)):e1185 doi:10.1097/GOX.0000000000001185.

ADULT Phenotype and rs16864880 in the TP63 Gene: Two New Cases and Review of the Literature.

Kawasaki de Araujo T, Lustosa-Mendes E, Dos Santos AP, et al.

Molecular syndromology 2017; (8(4)):201-205 doi:10.1159/000470025.

SIBLINGS AFFECTED BY ECTRODACTYLY-ECTODERMAL DYSPLASIA AND CLEFT LIP/PALATE (EEC) SYNDROME PRESENTING NORMAL PARENTS: GERMLINE MOSAICISM?

Rosa RFM, Moraes SAG, Sulczinski LP, et al.

Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 2017; (35(2)):234-238 doi:10.1590/1984-0462/;2017;35;2;00017.

Management of Severely Atrophic Maxilla in Ectrodactyly Ectodermal Dysplasia-cleft Syndrome.

Rachmiel A, Turgeman S, Emodi O, et al.

Plastic and reconstructive surgery. Global open 2018; (6(2)):e1678 doi:10.1097/GOX.0000000000001678.

Infrared meibography and molecular assessment of p63 gene mutations in a Mexican patient with EEC syndrome.

Garza-Leon M, León-Cachón RBR, Villafuerte-de la Cruz R, Martínez-Treviño DA

Archivos de la Sociedad Espanola de Oftalmologia 2018; (93(11)):562-566 doi:10.1016/j.oftal.2018.06.005.

Evolution of Acquired Middle Ear Cholesteatoma in Patients With Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate (EEC) Syndrome.

Lourencone LFM, Koga FDT, Oliveira EB, et al.

Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2018; (39(8)):e679-e682 doi:10.1097/MAO.0000000000001921.

Cooling Rates of Hyperthermic Humans Wearing American Football Uniforms When Cold-Water Immersion Is Delayed.

Miller KC, Di Mango TA, Katt GE

Journal of athletic training 2018; (53(12)):1200-1205 doi:10.4085/1062-6050-398-17.

Dental management of a child with ectrodactyly ectodermal dysplasia cleft lip/palate syndrome: A case report.

Elhamouly Y, Dowidar KM

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 2019; (39(2)):236-240 doi:10.1111/scd.12364.

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.

Zheng J, Liu H, Zhan Y, et al.

Molecular genetics & genomic medicine 2019; (7(6)):e704 doi:10.1002/mgg3.704.

A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families.

Sadia , Foo JN, Khor CC, et al.

The journal of gene medicine 2019; (21(9)):e3113 doi:10.1002/jgm.3113.

A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.

Jin JY, Zeng L, Li K, et al.

The journal of gene medicine 2019; (21(10)):e3122 doi:10.1002/jgm.3122.

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia.

Pennings M, Schouten MI, van Gaalen J, et al.

European journal of human genetics : EJHG 2020; (28(1)):40-49 doi:10.1038/s41431-019-0497-z.

Prosthetic rehabilitation with fixed prosthesis of a 5-year-old child with Hypohidrotic Ectodermal Dysplasia and Oligodontia: a case report.

AlNuaimi R, Mansoor M

Journal of medical case reports 2019; (13(1)):329 doi:10.1186/s13256-019-2268-4.

Nonsyndromic hereditary gingival fibromatosis: Characterization of a family and review of genetic etiology.

Resende EP, Xavier MT, Matos S, et al.

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 2020; (40(3)):320-328 doi:10.1111/scd.12458.

Ectrodactyly-ectodermal dysplasia-clefting syndrome presenting with bilateral choanal atresia and rectal stenosis.

Childs AJ, Mabin DC, Turnpenny PD

American journal of medical genetics. Part A 2020; (182(8)):1939-1943 doi:10.1002/ajmg.a.61628.

Zygomatic implant survival in 9 ectodermal dysplasia patients with 3.5- to 7-year follow-up.

Goker F, Grecchi E, Mancini EG, et al.

Oral diseases 2020; (26(8)):1803-1809 doi:10.1111/odi.13505.

MOLECULAR GENETICS OF CLEFT LIP AND PALATE: A REVIEW.

Oboli GO, Chukwuma DI, Fagbule OF, et al.

Annals of Ibadan postgraduate medicine 2020; (18(1)):S16-S21.

Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature.

Peña-Romero AG, Sáez-de-Ocariz M, Toussaint-Caire S, et al.

Pediatric dermatology 2021; (38(2)):442-448 doi:10.1111/pde.14415.

EEC-LM-ADULT syndrome caused by R319H mutation in TP63 with ectrodactyly, syndactyly, and teeth anomaly: A case report.

Otsuki Y, Ueda K, Nuri T, et al.

Medicine 2020; (99(44)):e22816 doi:10.1097/MD.0000000000022816.

A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance.

Elward C, Berg J, Oberlin JM, Rohena L

Clinical case reports 2020; (8(11)):2138-2144 doi:10.1002/ccr3.3085.

Severe heat stroke complicated by multiple cerebral infarctions: a case report.

Kamidani R, Okada H, Kitagawa Y, et al.

Journal of medical case reports 2021; (15(1)):24 doi:10.1186/s13256-020-02596-2.

Isoform-Specific Roles of Mutant p63 in Human Diseases.

Osterburg C, Osterburg S, Zhou H, et al.

Cancers 2021; (13(3)) doi:10.3390/cancers13030536.

TP63-related disorders: two case reports and a brief review of the literature.

Nanda A, AlLafi A, Wolf S, et al.

Dermatology online journal 2021; (27(11)) doi:10.5070/D3271156088.

p63 in corneal and epidermal differentiation.

Novelli F, Ganini C, Melino G, et al.

Biochemical and biophysical research communications 2022; (610()):15-22 doi:10.1016/j.bbrc.2022.04.022.

Socioeconomic Disparities in Surgical Care for Congenital Hand Differences.

Kalmar CL, Drolet BC

Hand (New York, N.Y.) 2024; (19(1)):104-112 doi:10.1177/15589447221092059.

Oral management of children/adolescents with ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: A scoping review.

Garrocho-Rangel A, Serrano-Aguilar G, Hernández-Molinar Y, et al.

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 2023; (43(2)):152-162 doi:10.1111/scd.12752.

Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance.

Gökdere S, Schneider H, Hehr U, et al.

Frontiers in genetics 2022; (13()):934395 doi:10.3389/fgene.2022.934395.

Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders.

Schneider H

Frontiers in genetics 2022; (13()):1000744 doi:10.3389/fgene.2022.1000744.

Case report: Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney.

Biwei H, Min S, Yanlin W, et al.

Frontiers in genetics 2022; (13()):1002089 doi:10.3389/fgene.2022.1002089.

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.

Török G, Saláta J, Ábrám E, et al.

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 2024; (44(1)):96-102 doi:10.1111/scd.12826.

Innovative Therapeutic Approaches for the Treatment of the Ocular Morbidities in Patients with EEC Syndrome.

Barbaro V, Bonelli F, Ferrari S, et al.

Cells 2023; (12(3)) doi:10.3390/cells12030495.

Ocular Manifestations of Ectrodactyly-Ectodermal Dysplasia-Cleft Palate (EEC) Syndrome: A Case Report.

Mohd Jais MF, Wan Dien T, Ang WJ, et al.

Cureus 2023; (15(3)):e36086 doi:10.7759/cureus.36086.

Gaining the Upper Hand: Understanding the Causes and Repercussions of Delayed Presentation of Congenital Hand Anomalies.

Corder BN, Benedict KC, Walker ME

Eplasty 2023; (23()):e30.

[Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome].

Bartalis K, Kálmán B, Kisely M

Orvosi hetilap 2023; (164(46)):1831-1837 doi:10.1556/650.2023.32913.

A spectrum of TP63-related disorders with eight affected individuals in five unrelated families.

Soğukpınar M, Utine GE, Boduroğlu K, Şimşek-Kiper PÖ

European journal of medical genetics 2024; (68()):104911 doi:10.1016/j.ejmg.2024.104911.

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.

Corona-Rivera JR, Rios-Flores IM, Zenteno JC, et al.

Molecular syndromology 2024; (15(1)):51-57 doi:10.1159/000531934.

Clinical, Pathological, and Genetic Characteristics of Patients with Digenic Alport Syndrome.

Inoki Y, Horinouchi T, Yamamura T, et al.

Kidney360 2024; (5(10)):1510-1517 doi:10.34067/KID.0000000000000547.

Hypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR.

Graversen L, Sommerlund M, Kruse C, et al.

European journal of medical genetics 2024; (72()):104982 doi:10.1016/j.ejmg.2024.104982.

Naso-alveolar Asymmetry in Unilateral Cleft Lip and Palate Patients-CT Analysis of the Paranasal Region.

Phua Y, Hessenauer M

The Journal of craniofacial surgery 2025; (36(3)):e303-e308 doi:10.1097/SCS.0000000000010934.

Severe heat stroke with multiorgan failure following collapse in a sauna.

McIver WJ, Zia M

BMJ case reports 2025; (18(1)) doi:10.1136/bcr-2024-262069.

Prenatal diagnosis of ectrodactyly-ectodermal dysplasia clefting syndrome ‒ a case report with literature review.

Savukyne E, Machtejeviene E, Bajeruniene K, Asmoniene V

Case reports in perinatal medicine 2022; (11(1)):20210076 doi:10.1515/crpm-2021-0076.

Subclinical parents assist in the detection of genetic variants in keratoconus by trio-based whole-exome sequencing.

Li X, Yao Y, Xing S, et al.

Molecular vision 2025; (31()):23-32.

Implant-Prosthetic Rehabilitation of a Patient With EEC Syndrome Using Additively Manufactured Custom-Made Subperiosteal Implants: A Case Report.

De Riu G, Biglio A, Spano G, et al.

The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2025; 10556656251350443 doi:10.1177/10556656251350443.

[Research progress on the diagnosis of ectodermal dysplasia and early oral prosthodontic treatment].

Lin L, Li P, Zhao W

Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology 2025; (43(4)):478-485 doi:10.7518/hxkq.2025.2025173.

Surgical management of ectrodactyly-associated foot deformity in a child: a case report.

Raza S, Rehman S, Toor Z, et al.

Journal of medical case reports 2025; (19(1)):452 doi:10.1186/s13256-025-05389-7.

Ectrodactyly, Cleft Lip/Palate, and Urinary Anomalies With a Tumor Protein p63 (TP63) Mutation: A Case Report and Literature Review.

Mohamed RH, Khalifa HM, Hassan HY, et al.

Cureus 2025; (17(9)):e92888 doi:10.7759/cureus.92888.

Syndactylisation with internal bracing using a suture-button construct for severe cleft foot (Ectrodactyly): A 3-year follow-up case report.

Sahu A, Garika SS, Manhas V

Journal of clinical orthopaedics and trauma 2025; (71()):103243 doi:10.1016/j.jcot.2025.103243.