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Article

Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2019

Hu Ping, Martinez Ariel F, Kruszka Paul, Berger Seth, Roessler Erich, Muenke Maximilian

Abstract excerpt

PURPOSE: De novo variants (DNVs) represent an important fraction of the pathogenic variant burden in holoprosencephaly (HPE). However, unexpected recurrences can occur, as evidenced by multiple affected children harboring the same apparently DNV. This study was performed to estimate the rate of parental mosaicism in a cohort of patients with HPE. METHODS: We developed a targeted capture next-generation sequencing...

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Identifiers

PMID: 30197418
DOI: 10.1038/s41436-018-0261-8

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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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