Results 21 to 30 of about 168,874 (283)

A Retrospective Study of Clinical and Mutational Findings in 45 Danish Families with Ectodermal Dysplasia [PDF]

, 2014
Ectodermal dysplasias form a complex, nosologic group of diseases with defects in at least 2 ectodermal structures. A retrospective study of patients with ectodermal dysplasia seen at our department over a period of 19 years (1994-2013) was performed ...
Mathias Tiedemann Svendsen, E. Juel Henningsen, Jens Michael Hertz, Dorthe Vestergård Grejsen, Anette Bygum   +4 more
openalex   +2 more sources

Clinical features, surgical outcomes and genetic analysis of ectodermal dysplasia with ocular diseases [PDF]

International Journal of Ophthalmology, 2022
AIM: To report on the clinical features, surgical outcomes and gene mutation analysis of three ectodermal dysplasia probands with ocular diseases. METHODS: A case-note review of three unrelated probands diagnosing with ectodermal dysplasia with ocular ...
Xi Chen, Wei-Xuan Zeng, Bao-Ying Duan, Yan-Yan Lin, Jia Liu, Zong-Duan Zhang   +5 more
doaj   +1 more source

Anhydrotic Ectodermal Dysplasia With Pregnancy- A Case Study [PDF]

Proceedings of the Royal Society of Medicine, 2013
Touhida Ahsan
openalex   +4 more sources

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

American Journal of Medical Genetics. Part A, 2021
Biallelic loss‐of‐function variants in the thrombospondin‐type laminin G domain and epilepsy‐associated repeats (TSPEAR) gene have recently been associated with ectodermal dysplasia and hearing loss.
B. Bowles, A. Ferrer, C. Nishimura, F. Pinto e Vairo, Tristan Rey, B. Leheup, J. Sullivan, K. Schoch, N. Stong, E. Agolini, D. Cocciadiferro, Abigail Williams, A. Cummings, S. Loddo, S. Genovese, C. Roadhouse, K. McWalter, I. Wentzensen, Chumei Li, D. Babovic‐Vuksanovic, Brendan C Lanpher, M. Dentici, A. Ankala, J. Hamm, B. Dallapiccola, F. Radio, V. Shashi, B. Gérard, A. Bloch-Zupan, Richard J. Smith, E. Klee   +30 more
semanticscholar   +1 more source

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations

Genes, 2021
Ectodermal dysplasia (ED) is a diverse group of genetic disorders caused by congenital defects of two or more ectodermal-derived body structures, namely, hair, teeth, nails, and some glands, e.g., sweat glands.
H. Ahmed, Ghada Y El-Kamah, Eman Rabie, M. Mostafa, Maha Abouzaid, N. Hassib, M. Mehrez, M. A. Abdel-Kader, Yasmine H Mohsen, S. Zada, K. Amr, I. Sayed   +11 more
semanticscholar   +1 more source

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia. [PDF]

BMC Oral Health
Liu Y, Sun J, Zhang C, Wu Y, Ma S, Li X, Wu X, Gao Q.   +7 more
europepmc   +3 more sources

Ocular manifestations of ectodermal dysplasia

Orphanet Journal of Rare Diseases, 2021
Purpose The ectodermal dysplasias (EDs) constitute a group of disorders characterized by abnormalities in two or more ectodermal derivatives, including skin, hair, teeth, and sweat glands.
Daphna Landau Prat, W. Katowitz, A. Strong, J. Katowitz   +3 more
semanticscholar   +1 more source

Anhidrotic Ectodermal Dysplasia in an Adolescent Boy Case Report and Review of Literature

Amrita Journal of Medicine, 2021
Ectodermal dysplasia is a rare genetic disorder due to defects in structures derived from ectoderm. It occurs due to mutation in genes that encode proteins involved in the development of ectodermal structures.
Thirunavukkarasu Arun Babu, Padmapriya Balakrishnan   +1 more
doaj   +1 more source

Generation of Hoxc13 knockout pigs recapitulates human ectodermal dysplasia–9 [PDF]

Human Molecular Genetics, 2016
Kai Han, Liuping Liang, Li Li, Zhen Ouyang, Bentian Zhao, Qi Wang, Zhaoming Liu, Yu Zhao, Xiaoshuai Ren, Fei Jiang, Chengdan Lai, Kepin Wang, Sen Yan, Liang Huang, Lin Guo, Kang Zeng, Liangxue Lai, Nana Fan   +17 more
openalex   +2 more sources

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Orphanet Journal of Rare Diseases, 2020
X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives.
S. Wohlfart, R. Meiller, J. Hammersen, J. Park, J. Menzel-Severing, V. Melichar, K. Huttner, Ramsey Johnson, Florence Porte, H. Schneider   +9 more
semanticscholar   +1 more source