Prenatal diagnosis of a novel pathogenic variation in the ACAN gene presenting with isolated shortening of fetal long bones in the second trimester of gestation: a case report

BACKGROUND: Heterozygous mutations of the ACAN gene are a major cause of different evolutive growth defects in the pediatric population, but were never described as a cause of fetal skeletal dysplasia. CASE PRESENTATION: A G1 at 21w + 3d came to our institution for the second-trimester ultrasound an...

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Detalles Bibliográficos
Autores principales: Toscano, Paolo, Di Meglio, Lavinia, Lonardo, Fortunato, Di Meglio, Letizia, Mazzarelli, Laura Letizia, Sica, Carmine, Di Meglio, Aniello
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8243643/
https://www.ncbi.nlm.nih.gov/pubmed/34187405
http://dx.doi.org/10.1186/s12884-021-03952-w

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