X-Linked Hypohidrotic Ectodermal Dysplasia-General Features and Dental Abnormalities in Affected Dogs Compared With Human Dental Abnormalities.
Sign Up to like & getrecommendations! Published in 2019 at "Topics in companion animal medicine"
DOI: 10.1053/j.tcam.2019.03.002
Abstract: X-linked hypohidrotic ectodermal dysplasia (XLHED) is a genetic disorder characterized by abnormalities in ectodermal derivatives such as sweat glands, hair, and teeth. In animals, the highest number of cases has been reported in dogs, which… read more here.
Keywords: ectodermal dysplasia; linked hypohidrotic; hypohidrotic ectodermal; dysplasia general ... See more keywords
A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia
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DOI: 10.1097/md.0000000000019244
Abstract: Abstract A mutation in the epithelial morphogen gene ectodysplasin-A1 (EDA1) is responsible for the disorder X-linked hypohidrotic ectodermal dysplasia (XLHED), the most common form of ectodermal dysplasia. XLHED is characterized by impaired development of hair,… read more here.
Keywords: ectodermal dysplasia; linked hypohidrotic; hypohidrotic ectodermal; eda1 ... See more keywords
Reproductive decision‐making by women with X‐linked hypohidrotic ectodermal dysplasia
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the European Academy of Dermatology and Venereology"
DOI: 10.1111/jdv.18267
Abstract: In X‐linked hypohidrotic ectodermal dysplasia (XLHED), ectodysplasin A1 (EDA1) deficiency results in malformation of hair, teeth and sweat glands. Lack of sweating which can cause life‐threatening hyperthermia is amenable to intrauterine therapy with recombinant EDA1. read more here.
Keywords: ectodermal dysplasia; decision making; hypohidrotic ectodermal; linked hypohidrotic ... See more keywords
Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern
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DOI: 10.3390/diagnostics12102300
Abstract: The goal of this study was to identify the pathogenic gene variants in female patients with severe X-linked hypohidrotic ectodermal dysplasia (XLHED). Whole-exome sequencing (WES) and Sanger sequencing were used to screen for the pathogenic… read more here.
Keywords: inactivation; chromosome inactivation; ectodermal dysplasia; hypohidrotic ectodermal ... See more keywords
Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia
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DOI: 10.3390/genes14010153
Abstract: X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder characte-rised by abnormal development of the skin and its appendages, such as hair and sweat glands, the teeth, and mucous glands of the airways, resulting… read more here.
Keywords: edelife trial; er004; trial; ectodermal dysplasia ... See more keywords
A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24087155
Abstract: 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. The absence of sweat glands and… read more here.
Keywords: long term; replacement; ectodermal dysplasia; term ... See more keywords