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

Genes - 12 Sept 2021

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

Abstract excerpt

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 coxa valga) and severe enamel and dental anomalies. Pathogenic variants in the latent transforming growth factor-β...

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Identifiers

PMID: 34573388
DOI: 10.3390/genes12091406
PMCID: PMC8470690

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A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.PMID 34573388Read ↗

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