Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia

BACKGROUND: In mammals, hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that is characterized by sparse hair, tooth abnormalities, and defects in cutaneous glands. Only four genes, EDA, EDAR, EDARADD and WNT10A account for more than 90% of HED cases, and EDA, on chromosome X, is involv...

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Detalles Bibliográficos
Autores principales: Escouflaire, Clémentine, Rebours, Emmanuelle, Charles, Mathieu, Orellana, Sébastien, Cano, Margarita, Rivière, Julie, Grohs, Cécile, Hayes, Hélène, Capitan, Aurélien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6749632/
https://www.ncbi.nlm.nih.gov/pubmed/31533624
http://dx.doi.org/10.1186/s12864-019-6087-1

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