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Article

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

Genes - 16 Jul 2021

Stembalska Agnieszka, Rydzanicz Małgorzata, Pollak Agnieszka, Kostrzewa Grazyna, Stawinski Piotr, Biela Mateusz, Ploski Rafal, Smigiel Robert

Abstract excerpt

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 sequencing procedures allows diagnosis of single-gene disorders in the prenatal period. Two patients with a...

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Identifiers

PMID: 34356094
DOI: 10.3390/genes12071078
PMCID: PMC8304314

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Prenatal Versus Postnatal Diagnosis of Meckel-Gruber and Joubert Syndrome in Patients with TMEM67 Mutations.PMID 34356094Read ↗

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