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   Articles with "hypohidrotic ectodermal" as a keyword



X-Linked Hypohidrotic Ectodermal Dysplasia-General Features and Dental Abnormalities in Affected Dogs Compared With Human Dental Abnormalities.

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recommendations! 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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recommendations! Published in 2020 at "Medicine"

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

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recommendations! 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

Prosthetic rehabilitation of patients with hypohidrotic ectodermal dysplasia: A systematic review

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recommendations! Published in 2018 at "Journal of Oral Rehabilitation"

DOI: 10.1111/joor.12638

Abstract: Hypohidrotic ectodermal dysplasia (HED) comprises a large group of inherited disorders of ectodermal structures, characterised by hypo- or anhidrosis, hypotrichosis and hypo- or oligo- or anodontia. We aimed to systematically assess the spectrum of prosthodontic… read more here.

Keywords: prosthetic rehabilitation; treatment; rehabilitation; ectodermal dysplasia ... See more keywords

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia

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recommendations! Published in 2024 at "BMC Oral Health"

DOI: 10.1186/s12903-024-03888-5

Abstract: The aim of this study was to analyse the differences in the phenotypes of missing teeth between a pair of brothers with hypohidrotic ectodermal dysplasia (HED) and to investigate the underlying mechanism by comparing the… read more here.

Keywords: hypohidrotic ectodermal; wnt10a; tooth agenesis; compound heterozygous ... See more keywords

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature

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recommendations! Published in 2024 at "Italian Journal of Pediatrics"

DOI: 10.1186/s13052-024-01681-2

Abstract: Background Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in the abnormal development of structures derived from ectodermal tissue. This rare condition predominantly affects the hair, nails, eccrine glands, and teeth. While HED… read more here.

Keywords: ectodermal dysplasia; insertion variant; hypohidrotic ectodermal; edaradd ... See more keywords
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Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families

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recommendations! Published in 2020 at "European Journal of Dermatology"

DOI: 10.1684/ejd.2020.3844

Abstract: Hypohidrotic ectodermal dysplasia (HED) is a congenital anomaly characterized by hypohydrosis, hypotrichosis and hypodontia. Mutations in at least four genes (EDAR, EDARADD, WNT10A, TRAF6) have been reported to cause both autosomal recessive and autosomal dominant… read more here.

Keywords: three consanguineous; family; consanguineous families; edar ... See more keywords

A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia

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recommendations! Published in 2024 at "Clinical, Cosmetic and Investigational Dermatology"

DOI: 10.2147/ccid.s451125

Abstract: Introduction Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that influences structures of ectodermal origin, such as teeth, hair, and sweat glands. Compared with autosomal recessive and dominant modes of inheritance, the X-linked HED (XLHED)… read more here.

Keywords: hypohidrotic ectodermal; ectodysplasin; mutation; ectodermal dysplasia ... 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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recommendations! Published in 2022 at "Diagnostics"

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
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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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recommendations! Published in 2023 at "Genes"

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

Application of a Conservative Prosthodontic Approach in the Rehabilitation of a 10-Year-Old Child with Hypohidrotic Ectodermal Dysplasia

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recommendations! Published in 2025 at "Healthcare"

DOI: 10.3390/healthcare13131543

Abstract: Background/Objectives: Hypohidrotic ectodermal dysplasia (HED) is a rare hereditary disorder affecting ectoderm-derived tissues including teeth, hair, and sweat glands. The dental abnormalities associated with HED, such as oligodontia and conical teeth, often result in significant… read more here.

Keywords: hypohidrotic ectodermal; prosthodontic approach; ectodermal dysplasia; year old ... See more keywords