Research & Literature

Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology.

Azar A, Piccinelli C, Brown H, et al.

Human molecular genetics 2016; (25(16)):3564-3577 doi:10.1093/hmg/ddw202.

A novel large deletion that encompasses EDA and the downstream gene AWAT2 causes X-linked hypohidrotic/anhidrotic ectodermal dysplasia.

Chaudhary AK, Sankar VH, Bashyam MD

Journal of dermatological science 2016; (84(1)):105-107 doi:10.1016/j.jdermsci.2016.06.012.

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.

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.

Schneider H, Faschingbauer F, Schuepbach-Mallepell S, et al.

The New England journal of medicine 2018; (378(17)):1604-1610 doi:10.1056/NEJMoa1714322.

Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross-sectional study.

Ngoc VTN, Duong NT, Chu DT, et al.

Clinical genetics 2018; (94(5)):484-486 doi:10.1111/cge.13435.

Oral Care Program for Successful Long-Term Full Mouth Habilitation of Patients with Hypohidrotic Ectodermal Dysplasia.

Hsieh YL, Razzoog M, Garcia Hammaker S

Case reports in dentistry 2018; (2018()):4736495 doi:10.1155/2018/4736495.

Role of ectodysplasin signalling in middle ear and nasal pathology in rat and mouse models of hypohidrotic ectodermal dysplasia.

Del-Pozo J, MacIntyre N, Azar A, et al.

Disease models & mechanisms 2019; (12(4)) doi:10.1242/dmm.037804.

Novel and Private EDA Mutations and Clinical Phenotypes of Korean Patients with X-Linked Hypohidrotic Ectodermal Dysplasia.

Park JS, Ko JM, Chae JH

Cytogenetic and genome research 2019; (158(1)):1-9 doi:10.1159/000500214.

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.

Facial Morphological Changes Following Denture Treatment in Children with Hypohidrotic Ectodermal Dysplasia.

Ding M, Fan Y, Qin M, et al.

Pediatric dentistry 2020; (42(4)):315-320.

Characterization of a novel gross deletion and insertion mutation in EDA gene causing hypohidrotic ectodermal dysplasia.

Sun J, Chen L, Han S, et al.

The Journal of dermatology 2021; (48(1)):e29-e30 doi:10.1111/1346-8138.15653.

Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib.

Li X, Wu X, Elston DM, et al.

Acta dermato-venereologica 2021; (101(1)):adv00352 doi:10.2340/00015555-3693.

Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.

Andreoni F, Sgattoni C, Bencardino D, et al.

Molecular genetics & genomic medicine 2021; (9(1)):e1555 doi:10.1002/mgg3.1555.

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy.

Modi BP, Del Bel KL, Lin S, et al.

Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology 2021; (17(1)):9 doi:10.1186/s13223-021-00510-z.

Prenatal sonographic diagnosis of X-linked hypohidrotic ectodermal dysplasia: An unusual case.

Li TG, Ma B, Tie HX, et al.

Journal of clinical ultrasound : JCU 2021; (49(8)):838-840 doi:10.1002/jcu.23020.

An epidemiological survey of anhidrotic/hypohidrotic ectodermal dysplasia in Japan: High prevalence of allergic diseases.

Inazawa-Terada M, Namiki T, Omigawa C, et al.

The Journal of dermatology 2022; (49(4)):422-431 doi:10.1111/1346-8138.16278.

Rehabilitation Considerations for Very Young Children with Severe Oligodontia due to Ectodermal Dysplasia: Report of Three Clinical Cases with a 2-Year Follow-Up.

Seremidi K, Markouli A, Agouropoulos A, et al.

Case reports in dentistry 2022; (2022()):9925475 doi:10.1155/2022/9925475.

Reproductive decision-making by women with X-linked hypohidrotic ectodermal dysplasia.

Leo B, Schneider H, Hammersen J

Journal of the European Academy of Dermatology and Venereology : JEADV 2022; (36(10)):1863-1870 doi:10.1111/jdv.18267.

Rehabilitation with implant-supported overdentures in preteens patients with ectodermal dysplasia: A cohort study.

Montanari M, Grande F, Lepidi L, et al.

Clinical implant dentistry and related research 2023; (25(6)):1187-1196 doi:10.1111/cid.13258.

Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.

Xing Q, Zhou Q, Li H, et al.

Oral diseases 2024; (30(7)):4608-4619 doi:10.1111/odi.14838.

Masticatory function in growing individuals with hypohidrotic ectodermal dysplasia: A longitudinal study.

Ding M, Kang Y, Qin M, Zhu J

International journal of paediatric dentistry 2025; (35(3)):598-607 doi:10.1111/ipd.13271.

Management of a patient with ectodermal dysplasia with implant-assisted and implant-supported restorations: Sixteen years of clinical care.

Moustafa OH, Aldosari AM, Knobloch LA

The Journal of prosthetic dentistry 2025; (134(6)):2035-2043 doi:10.1016/j.prosdent.2025.01.031.

Complete-arch implant rehabilitation and adjunctive orthognathic surgery of a patient with hypohidrotic ectodermal dysplasia utilizing a digital workflow: A clinical report.

Gonzaga L, Lawand G, Blumberg S, et al.

Journal of prosthodontics : official journal of the American College of Prosthodontists 2025; doi:10.1111/jopr.14060.

Prenatal Ultrasound Findings of X-Linked Hypohidrotic Ectodermal Dysplasia: A Case Report.

She L, Yang M, Wu H, et al.

Journal of clinical ultrasound : JCU 2026; (54(1)):229-233 doi:10.1002/jcu.70033.

[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.

A case study of a novel homozygous EDAR splice site variant in hypohidrotic ectodermal dysplasia with tooth agenesis: molecular dynamics insights.

Nejati P, Khosravi T, Lorestani S, Oladnabi M

BMC medical genomics 2025; (19(1)):19 doi:10.1186/s12920-025-02300-7.

A narrow time-window for WNT, EDA, and SHH signaling during postnatal sweat gland development.

Dernai J, Maier-Wohlfart S, Peschel N, et al.

Gene 2026; (1004()):150247 doi:10.1016/j.gene.2026.150247.