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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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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Stembalska, Agnieszka, Rydzanicz, Małgorzata, Pollak, Agnieszka, Kostrzewa, Grazyna, Stawinski, Piotr, Biela, Mateusz, Ploski, Rafal, Smigiel, Robert
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Acesso em linha: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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