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Article

Earliest ultrasound findings and description of splicing mutations in Meckel-Gruber syndrome.

Archives of gynecology and obstetrics - 1 Oct 2012

Eckmann-Scholz Christel, Jonat Walter, Zerres Klaus, Ortiz-Brüchle Nadine

Abstract excerpt

OBJECTIVE: To describe early ultrasound findings in Meckel-Gruber syndrome (MKS) in first and second trimester of three families, detailed ultrasound findings have been documented in addition to pathoanatomical findings and results of DNA studies. A splice site mutation in the MKS4 gene could be detected. Clinical management accounting risk assessment for future pregnancies is discussed and early ultrasound...

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PMID: 22699515
DOI: 10.1007/s00404-012-2411-6

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

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