Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with TMEM67 Mutations

Renal cystic diseases are characterized by genetic and phenotypic heterogeneity. Congenital renal cysts can be classified as developmental disorders and are commonly diagnosed prenatally using ultrasonography and magnetic resonance imaging. Progress in molecular diagnostics and availability of exome...

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Detalles Bibliográficos
Autores principales: Stembalska, Agnieszka, Rydzanicz, Małgorzata, Pollak, Agnieszka, Kostrzewa, Grazyna, Stawinski, Piotr, Biela, Mateusz, Ploski, Rafal, Smigiel, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8304314/
https://www.ncbi.nlm.nih.gov/pubmed/34356094
http://dx.doi.org/10.3390/genes12071078

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8304314/
https://www.ncbi.nlm.nih.gov/pubmed/34356094
http://dx.doi.org/10.3390/genes12071078

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