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Article

Atlantoaxial instability associated with ALDH18A1 mutation.

American journal of medical genetics. Part A - 1 Dec 2023

Lucas Alexandra T, Lin Angela E, Cohen Andrew, Muñoz William, Kahle Kristopher T, Shin John H, Buch Karen, Sahai Inderneel, Carroll Ryan W

Abstract excerpt

We report a 10-year-old boy with a de novo pathogenic variant in ALDH18A1, a rare form of metabolic cutis laxa, which was complicated by atlantoaxial instability and spinal cord compression following a fall from standing height. The patient required emergent cervical spine fusion and decompression followed by a 2-month hospitalization and rehabilitation. In addition to the core clinical features of joint and skin...

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Identifiers

PMID: 37655511
DOI: 10.1002/ajmg.a.63388

Provenance

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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