Hypohidrotic ectodermal dysplasia: clinical and molecular review

J Reyes‐Reali, MI Mendoza‐Ramos… - International journal …, 2018 - Wiley Online Library
Abstract Hypohidrotic Ectodermal Dysplasia (HED) is a genetic human disorder which
affects structures of ectodermal origin. Although there are autosomal recessive and …

[HTML][HTML] Generation of cashmere goats carrying an EDAR gene mutant using CRISPR-Cas9-mediated genome editing

F Hao, W Yan, X Li, H Wang, Y Wang, X Hu… - … journal of biological …, 2018 - ncbi.nlm.nih.gov
In recent years, while the use of the clustered regularly interspaced short palindromic repeat
(CRISPR)-CRISPR-associated protein 9 (Cas9)(CRISPR-Cas9) system for targeted genome …

[HTML][HTML] 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 term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited
developmental disorders that affect several tissues of ectodermal origin. The most common …

Understanding the impact of missense mutations on the structure and function of the EDA gene in X‐linked hypohidrotic ectodermal dysplasia: A bioinformatics …

P Ranjan, P Das - Journal of Cellular Biochemistry, 2022 - Wiley Online Library
X‐linked hypohidrotic dysplasia (XLHED), caused by mutations in the EDA gene, is a rare
genetic disease that affects the development and function of the teeth, hair, nails, and sweat …

[HTML][HTML] Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis

Y Han, X Wang, L Zheng, T Zhu, Y Li, J Hong… - Frontiers in …, 2020 - frontiersin.org
Background This study aimed to investigate the genetic causes of hypohidrotic ectodermal
dysplasia (HED) in two families and elucidate the molecular pathogenesis of HED in …

Identification of genes responsible for the variation in facial and teeth morphology in Latin Americans

M Fuentes-Guajardo - 2019 - discovery.ucl.ac.uk
Facial and dental features are of considerable importance in biomedicine and forensics.
Facial appearance has a strong genetic component and could have evolved to facilitate …

[PDF][PDF] Early prosthetic treatment of children with hypohidrotic ectodermal dysplasia: six case reports

S Li, X Xiao, R Wu, B Zeng, D Yu - Int J Oral Dent …, 2017 - pdfs.semanticscholar.org
Hypohidrotic ectodermal dysplasia (HED) is a rare hereditary disorder characterized by
defects of two or more ectodermal structures. Partial or complete absence of deciduous and …

Palmoplantar keratoderma: An unusual manifestation of hypohydrotic ectodermic dysplasia

W Abdelli, A Souissi, F Alaoui, W Sassi… - Clinical Case …, 2022 - Wiley Online Library
Rapp–Hodgkin syndrome (RHS) is a rare condition that is characterized by ectodermal
dysplasia and palatal abnormalities. Palmoplantar keratoderma (PPK) is an unusual …

An unusual manifestation of X‐linked hypohidrotic ectodermal dysplasia with palmoplantar keratoderma

M De Brito, L Ferguson, S Mansour… - Clinical and …, 2020 - academic.oup.com
2 Wolchok JD, Chiarion-Sileni V, Gonzalez R et al. Overall survival with combined
nivolumab and ipilimumab in advanced melanoma. N Engl J Med 2017; 377: 1345–56. 3 …

[引用][C] 外胚叶发育不全综合征患者口腔修复策略的研究进展

李思洁, 肖雪, 赵玮 - 中华口腔医学研究杂志(电子版), 2016