Results 1 to 10 of about 78,340 (172)

X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease [PDF]

Molecular Genetics and Metabolism Reports
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic congenital disorder characterized by allelic heterogeneity, affecting the ectodermal structures.
Yamato Hanawa, Wataru Murasaki, Tatsuya Ando, Yuji Baba, Hiroyuki Namba   +4 more
doaj   +4 more sources

Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants [PDF]

Nature Communications, 2023
EDA variants are associated with X-linked hypohidrotic dysplasia. Here, the authors report the crystal structure of the human EDA-EDAR complex, reveal the important role of this complex in ectodermal development and uncover the structural mechanism of ...
Kang Yu, Chenhui Huang, Futang Wan, Cailing Jiang, Juan Chen, Xiuping Li, Feng Wang, Jian Wu, Ming Lei, Yiqun Wu   +9 more
doaj   +3 more sources

A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses. [PDF]

PLoS ONE
Ectodysplasin A related hypohidrotic ectodermal dysplasia (XLHED) is a well-studied fetal developmental disorder in mammals that mainly affects ectodermal structures. It has been identified in a variety of species, including mice, rats, dogs, cattle, and
Frederik Krull, Martina Bleyer, Jana Schäfer, Bertram Brenig   +3 more
doaj   +3 more sources

Hypohidrotic Ectodermal Dysplasia: A Case Report. [PDF]

Cureus, 2023
Introduction and importance: Hypohidrotic ectodermal dysplasia (HED) is a rare heterogeneous genetic congenital disorder affecting at least 1 in 5000–10,000 newborns.
Shamim H, Hanif S.
europepmc   +4 more sources

A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family. [PDF]

BMC Pregnancy Childbirth
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder that affects the development of the skin, hair, nails, teeth, and sweat glands. Due to its rarity, there are currently few methods that can be applied to facilitate its diagnosis during ...
Yao L, Wan L, Lin Y, Zhang Y, Cai X, Ye J, He G, Zhu B, Zhang J.   +8 more
europepmc   +2 more sources

Hypohidrotic ectodermal dysplasia: A rare entity. [PDF]

J Oral Maxillofac Pathol, 2023
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder which involves a complex group of inherited conditions. This condition is characterised by the failed development of two or more ectodermal derived anatomic structure; for example, the skin ...
Srivastava H, Singh CK, Qureshi SMR, Mastud CS.   +3 more
europepmc   +2 more sources

Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus. [PDF]

Orphanet J Rare Dis
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a severe genetic disorder that may be treatable with short-term protein replacement therapy during fetal development. This is currently being investigated in a multicenter clinical trial.
Schneider H, Schneider M, Lia M, Grange DK, Hadj-Rabia S, Clarke A, Fete M, Jaulent A, Guiraud M, Odibo A, Faschingbauer F.   +10 more
europepmc   +2 more sources

Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1. [PDF]

Cureus, 2023
Ectodermal dysplasia (ED) is a rare disorder that appears differently in clinical cases and can present with a variety of combinations and severities of abnormalities that can involve a variety of tissues.
Zaki H.
europepmc   +2 more sources

The oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel EVC2 variant. [PDF]

Heliyon, 2023
Objectives To analyse the pathogenic genes in a patient with hypohidrotic ectodermal dysplasia (HED) and explore the relationship between pathogenic genes and the oligodontia phenotype.
Wu Y, Sun J, Zhang C, Ma S, Liu Y, Wu X, Gao Q.   +6 more
europepmc   +2 more sources

A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement. [PDF]

Int J Mol Sci, 2023
X-linked hypohidrotic ectodermal dysplasia (XLHED), caused by a genetic deficiency of ectodysplasin A1 (EDA1), is a rare developmental disorder of ectodermal derivatives such as hair, sweat glands, and teeth.
Schneider H, Schweikl C, Faschingbauer F, Hadj-Rabia S, Schneider P.   +4 more
europepmc   +2 more sources