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

Prenatal Versus Postnatal Diagnosis of Meckel–Gruber and Joubert Syndrome in Patients with <i>TMEM67</i> 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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Bibliographic Details
Main Authors: Agnieszka Stembalska, Małgorzata Rydzanicz, Agnieszka Pollak, Grazyna Kostrzewa, Piotr Stawinski, Mateusz Biela, Rafal Ploski, Robert Smigiel
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Genes
Subjects:
<i>TMEM67</i> gene
prenatal and postnatal diagnosis
genetic and phenotypic diagnosis
Joubert syndrome
Meckel–Gruber syndrome
Online Access:https://www.mdpi.com/2073-4425/12/7/1078

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https://www.mdpi.com/2073-4425/12/7/1078

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