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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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Detaylı Bibliyografya
Yayımlandı:Genes (Basel)
Asıl Yazarlar: Stembalska, Agnieszka, Rydzanicz, Małgorzata, Pollak, Agnieszka, Kostrzewa, Grazyna, Stawinski, Piotr, Biela, Mateusz, Ploski, Rafal, Smigiel, Robert
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: MDPI 2021
Konular:
Online Erişim: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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