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Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort

OBJECTIVE: This retrospective cohort study aims to describe the genetic spectrum of fetal skeletal dysplasias detected in a Finnish patient cohort and the diagnostic yield of various analysis methods used. METHOD: A total of 121 pregnancies with prenatally suspected or diagnosed skeletal dysplasia w...

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Detalles Bibliográficos
Autores principales:	Rajala, Katri, Kasanen, Ellamaija, Toiviainen‐Salo, Sanna, Valta, Helena, Mäkitie, Outi, Stefanovic, Vedran, Tanner, Laura
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2022
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9796183/ https://www.ncbi.nlm.nih.gov/pubmed/35611473 http://dx.doi.org/10.1002/pd.6186

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