[HTML][HTML] Neurocristopathies: New insights 150 years after the neural crest discovery

GA Vega-Lopez, S Cerrizuela, C Tribulo… - Developmental biology, 2018 - Elsevier
The neural crest (NC) is a transient, multipotent and migratory cell population that generates
an astonishingly diverse array of cell types during vertebrate development. These cells …

Spectrum of genetic variants associated with anterior segment dysgenesis in South Florida

S Thanikachalam, E Hodapp, TC Chang… - Genes, 2020 - mdpi.com
Anterior segment dysgenesis (ASD) comprises a wide spectrum of developmental
conditions affecting the cornea, iris, and lens, which may be associated with abnormalities of …

Molecular Modeling Analysis Provides Genotype–Phenotype Correlation Insights in a Patient with Ankyloblepharon-Ectodermal Dysplasia-Clefting Syndrome

A Douka, L Goutzanis, D Vlachakis, GP Chrousos… - Genes, 2023 - mdpi.com
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome is a rare autosomal
dominant disorder. AEC is caused by mutations in the TP63 gene that encodes the tumor …

[PDF][PDF] ankyloblepharon filiform adnatum: Beyond the eye Ankyloblépharon filiforme adnatum: Au-delà de l'œil

I Malek, M Mekni, J Sayadi, A Bezzine… - La Tunisie …, 2019 - latunisiemedicale.com
The ankyloblepharon filiform adnatum (AFA) is a rare congenital palpebral abnormality
characterized by a partial non disjunction of the gray lines of upper and lower eyelids. We …

[PDF][PDF] Ectodermal dysplasia: case report and molecular review

A Sood, D Mishra - Polymorphism, 2021 - peerpublishers.com
The term 'Ectodermal dysplasia'refers to a group of heterogenous hereditary disorders
characterized by abnormalities in ectodermal derivatives. There have been a number of …

Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida

S Thanikachalam, E Hodapp, TC Chang, DM Swols… - 2020 - researchsquare.com
Background Anterior segment dysgenesis (ASD) comprises a wide spectrum of
developmental conditions affecting the cornea, iris, and lens, which may be associated with …

[HTML][HTML] Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations

RR Hossain, SGJ Ng, C Chong, VE Botha… - Indian Journal of …, 2022 - journals.lww.com
Ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome is a form of ectodermal
dysplasia (ED), a rare group of autosomal dominant genetic disorders caused by mutations …