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Article

Family Lore, a Variant of Uncertain Significance, and CADASIL.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Nov 2024

Duarte Rhys, Vossaert Liesbeth, Darilek Sandra A, Rose Chelsi, Schauer Evan, Parobek Christian, Bland Emily, Machol Keren, Mizerik Elizabeth, Murali Chaya N

Abstract excerpt

An infant presents in extremis. After the medical team stabilizes him, the race is on to figure out why he got so sick in the first place. The consulting genetics team thinks that it is unlikely his problems are due to a genetic cause, but his extreme, confounding presentation is enough to justify trio exome sequencing. When the results reveal an unexpected, paternally inherited variant of uncertain significance...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39428697
DOI: 10.1002/ajmg.c.32117
PMCID: PMC12619969

Genes

NOTCH3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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