ArticleMolecular genetics & genomic medicine2014
Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.
Article in Molecular genetics & genomic medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
11 citing papers in PubMed, 26 citations in OpenAlex.
- Unlocking 3D baby face photogrammetry: Multi-view BabyMorph reconstruction from uncalibrated photographs.Expert systems with applications · 2026Article
- The emergence of the ectodysplasin pathway.Open life sciences · 2026Article
- Facial analytics based on a coordinate extrapolation system (zFACE) for morphometric phenotyping of developing zebrafish.Disease models & mechanisms · 2023Article
- Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.Nature communications · 2023Article
- Article
- Ontogeny of the facial phenotypic variability in Mexican patients with 22q11.2 deletion syndrome.Head & face medicine · 2019Article
- Upper cervical spine and craniofacial morphology in hypohidrotic ectodermal dysplasia.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2018Article
- Environmental selection during the last ice age on the mother-to-infant transmission of vitamin D and fatty acids through breast milk.Proceedings of the National Academy of Sciences of the United States of America · 2018Article
- The FaceBase Consortium: a comprehensive resource for craniofacial researchers.Development (Cambridge, England) · 2016Article
- A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation.Nature communications · 2016Article
- From Bench to Bedside and Back: Improving Diagnosis and Treatment of Craniofacial Malformations Utilizing Animal Models.Current topics in developmental biology · 2015Review
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Authors and funding
19 authors at 7 institutions in 2 countries.
Funding
Abstract
Hypohidrotic ectodermal dysplasia (HED) is the most prevalent type of ectodermal dysplasia (ED). ED is an umbrella term for a group of syndromes characterized by missing or malformed ectodermal structures, including skin, hair, sweat glands, and teeth. The X-linked recessive (XL), autosomal recessive (AR), and autosomal dominant (AD) types of HED are caused by mutations in the genes encoding ectodysplasin (EDA1), EDA receptor (EDAR), or EDAR-associated death domain (EDARADD). Patients with HED have a distinctive facial appearance, yet a quantitative analysis of the HED craniofacial phenotype using advanced three-dimensional (3D) technologies has not been reported. In this study, we characterized craniofacial morphology in subjects with X-linked hypohidrotic ectodermal dysplasia (XLHED) by use of 3D imaging and geometric morphometrics (GM), a technique that uses defined landmarks to quantify size and shape in complex craniofacial morphologies. We found that the XLHED craniofacial phenotype differed significantly from controls. Patients had a smaller and shorter face with a proportionally longer chin and midface, prominent midfacial hypoplasia, a more protrusive chin and mandible, a narrower and more pointed nose, shorter philtrum, a narrower mouth, and a fuller and more rounded lower lip. Our findings refine the phenotype of XLHED and may be useful both for clinical diagnosis of XLHED and to extend understanding of the role of EDA in craniofacial development.
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