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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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Bibliografski detalji
Izdano u:Genes (Basel)
Glavni autori: Stembalska, Agnieszka, Rydzanicz, Małgorzata, Pollak, Agnieszka, Kostrzewa, Grazyna, Stawinski, Piotr, Biela, Mateusz, Ploski, Rafal, Smigiel, Robert
Format: Artigo
Jezik:Inglês
Izdano: MDPI 2021
Teme:
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8304314/
https://ncbi.nlm.nih.gov/pubmed/34356094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12071078
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