A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3

In recent years, a rare form of autosomal recessive brachyolmia associated with amelogenesis imperfecta (AI) has been described as a novel nosologic entity. This disorder is characterized by skeletal dysplasia (e.g., platyspondyly, short trunk, scoliosis, broad ilia, elongated femoral necks with cox...

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Detalles Bibliográficos
Autores principales: Flex, Elisabetta, Imperatore, Valentina, Carpentieri, Giovanna, Bruselles, Alessandro, Ciolfi, Andrea, Pizzi, Simone, Tedesco, Maria Giovanna, Rogaia, Daniela, Mencarelli, Amedea, Di Cara, Giuseppe, Verrotti, Alberto, Troiani, Stefania, Merla, Giuseppe, Tartaglia, Marco, Prontera, Paolo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8470690/
https://www.ncbi.nlm.nih.gov/pubmed/34573388
http://dx.doi.org/10.3390/genes12091406

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