… the impact of missense mutations on the structure and function of the EDA gene in X‐linked hypohidrotic ectodermal dysplasia: A bioinformatics approach
P Ranjan, P Das – Journal of Cellular Biochemistry, 2022 – Wiley Online Library
… As previously documented, hypohidrotic ectodermal dysplasia (HED) is described as
syndromic tooth agenesis caused mostly by mutations in four genes: caused by an ectodysplasin‐…
A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia
CT Chear, BAK El Farran, M Sham, K Ramalingam… – Genes, 2022 – mdpi.com
Background: Inborn errors of immunity (IEIs) are comprised of heterogeneous groups of
genetic disorders affecting immune function. In this report, a 17-month-old Malay patient …
A rare case of hypohidrotic ectodermal dysplasia in a seven-year-old child
SAY Shah, WU Hassan, W Sajjad, UB Shabbir, A Raza – Cureus, 2022 – cureus.com
… Ectodermal dysplasia (ED) is not a single disorder but a complex group of various genetic
disorders that primarily have an effect on the skin and its appendages. More than 180 different …
An epidemiological survey of anhidrotic/hypohidrotic ectodermal dysplasia in Japan: High prevalence of allergic diseases
M Inazawa‐Terada, T Namiki… – The Journal of …, 2022 – Wiley Online Library
… Ectodermal dysplasia with immunodeficiency is not considered A/ HED and is not included
in this study. If a patient refused to be investigated, he or she was excluded from the study. …
EEC - Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome
Oral & MaxillofacialUrology
Cleft Lip & PalateKidney / Urinary
p63 pathway
Case report: Prenatal diagnosis of Ectrodactyly–Ectodermal dysplasia–Cleft syndrome (EEC) in a fetus with cleft lip and polycystic kidney
H Biwei, S Min, W Yanlin, Z Xinrong, G Li… – Frontiers in …, 2022 – frontiersin.org
… Ectrodactyly–ectodermal dysplasia–cleft (EEC) syndrome is an autosomal dominant
disorder characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefting. Reduced …
Clinical and genetic characteristics of ectodermal dysplasia in four Indian children
D Kamat, R Mahajan, D Chatterjee… – Indian Journal of …, 2022 – pmc.ncbi.nlm.nih.gov
Introduction: Ectodermal dysplasias (EDs) affect structures derived from the ectoderm such
as skin, its appendages, nail, and teeth. In this series, we describe four patients presenting …
Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity
EA Rabie, ISM Sayed, K Amr, HA Ahmed, MI Mostafa… – Genes, 2022 – mdpi.com
Ectodermal dysplasia (ED) are hereditary disorders characterized by the disturbance of the
ectodermal development of at least two of four ectodermal tissues: teeth, hair, nails and …
Digital implant planning in patients with ectodermal dysplasia: clinical report
L Bohner, S Vinayahalingam, J Kleinheinz… – International Journal of …, 2022 – mdpi.com
… Ectodermal dysplasia may severely affect the development … two patients suffering from
ectodermal dysplasia, both treated … a manifestation of ectodermal dysplasia, showing oligodontia …
HA Alshegifi, AM Alamoudi, A Alrougi, H Alshaikh… – Cureus, 2022 – cureus.com
… ectodermal dysplasia who presented to a dermatology clinic. … are the most common types
of ectodermal dysplasia [5]. … of hair manifestations of ectodermal dysplasia that include little or …
Ectodermal dysplasia: important role of complex dental care in its interdisciplinary management.
L Kratochvilova, T Dostalova, M Schwarz… – European Journal of …, 2022 – europepmc.org
… The present article summarises the facts about ectodermal dysplasia (ED) in a cohort of
13 patients, where the following were evaluated: clinical manifestations of ED, pathogenic …
Extended overview of ocular phenotype with recent advances in hypohidrotic ectodermal dysplasia
M Callea, S Bignotti, F Semeraro, F Cammarata-Scalisi… – Children, 2022 – mdpi.com
… The most common form of EDs is hypohidrotic ectodermal dysplasia (HED), which is
characterized by hypodontia, hypotrichosis, and partial or total eccrine sweat gland deficiency. HED …
Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance
S Gökdere, H Schneider, U Hehr, L Willen… – Frontiers in …, 2022 – frontiersin.org
Deficiency of ectodysplasin A1 (EDA1) due to variants of the gene EDA causes X-linked
hypohidrotic ectodermal dysplasia (XLHED), a rare genetic condition characterized by abnormal …
Hypohidrotic ectodermal dysplasia: A case report with review and latest updates
SP Bagdey, RB Moharil, A Dive… – Journal of Oral and …, 2022 – pmc.ncbi.nlm.nih.gov
Ectodermal dysplasia represents a group of inherited conditions in which two or more
ectodermally derived anatomical structures fail to develop resulting in most notably anhidrosis/…
Interdisciplinary rehabilitation of a patient with ectodermal dysplasia utilizing digital tools: A clinical report
LH Gonzaga, KP Amorim, N Sesma… – The Journal of Prosthetic …, 2022 – Elsevier
… The present clinical report describes the rehabilitation of a patient diagnosed with ectodermal
dysplasia … Ectodermal dysplasia (ED) is a hereditary condition characterized by abnormal …
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT …
W Dufour, S Alawbathani, AS Jourdain, M Asif… – Genetics in …, 2022 – Elsevier
… It was recently suspected as a candidate for ectodermal dysplasia in 2 individuals carrying …
, polydactyly or split hand/foot, and ectodermal dysplasia. Depending on the type and location …
Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review
M Cerezo-Cayuelas, A Perez-Silva… – Orphanet Journal of …, 2022 – Springer
… in patients with ectodermal dysplasia to facilitate functional … any type of ectodermal dysplasia
who received orthodontic or … and/or anhidrotic ectodermal dysplasia, of which two were X‑…
Prenatal ultrasound findings of ectodermal dysplasia: a case report
L Li, Y Zhou, R Tian, C Zhang – BMC Pregnancy and Childbirth, 2022 – Springer
… : Ectodermal Dysplasia is a … of ectodermal dysplasia depends on a fetal genetic test combined
with the family history. In this case report, we present a fetal case of ectodermal dysplasia …
Rehabilitation Considerations for Very Young Children with Severe Oligodontia due to Ectodermal Dysplasia: Report of Three Clinical Cases with a 2‐Year Follow‐Up
K Seremidi, A Markouli, A Agouropoulos… – Case Reports in …, 2022 – Wiley Online Library
Introduction. Management of oligodontia can be complicated and requires multidiscipline
care, involving a wide spectrum of interventions. The aim of this report is to describe the …
Reproductive decision‐making by women with X‐linked hypohidrotic ectodermal dysplasia
B Leo, H Schneider… – Journal of the European …, 2022 – Wiley Online Library
Background In X‐linked hypohidrotic ectodermal dysplasia (XLHED), ectodysplasin A1 (EDA1)
deficiency results in malformation of hair, teeth and sweat glands. Lack of sweating which …
… of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of …
HA Ahmed, GY El-Kamah, E Rabie, MI Mostafa… – Genes, 2021 – mdpi.com
… Ectodermal dysplasia (ED) is a diverse group of genetic disorders caused by congenital …
The most common ED phenotype is hypohidrotic/anhidrotic ectodermal dysplasia (HED) …
