Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias

Skeletal dysplasias (SDs) are a large, heterogeneous group of mostly genetic disorders that affect the bones and cartilage, resulting in abnormal growth and development of skeletal structures. The high clinical and genetic diversity in SDs cause difficulties in prenatal diagnosis. To establish a cor...

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Detalles Bibliográficos
Autores principales: Stembalska, Agnieszka, Rydzanicz, Małgorzata, Klaniewska, Magdalena, Dudarewicz, Lech, Pollak, Agnieszka, Biela, Mateusz, Stawinski, Piotr, Ploski, Rafal, Smigiel, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9332837/
https://www.ncbi.nlm.nih.gov/pubmed/35893076
http://dx.doi.org/10.3390/genes13081339

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9332837/
https://www.ncbi.nlm.nih.gov/pubmed/35893076
http://dx.doi.org/10.3390/genes13081339

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