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ALDH1A2‐related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway

19 Oct 2022

Abstract excerpt

Aldehyde Dehydrogenase 1, Family Member A2 (ALDH1A2) is essential for the synthesis of retinoic acid from vitamin A. Studies in model organisms demonstrate a critical role for ALDH1A2 in embryonic development, yet few pathogenic variants are linked to congenital anomalies in humans. We present three siblings with multiple congenital anomaly syndrome linked to biallelic sequence variants in ALDH1A2. The major...

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PMID: 36263470
DOI: 10.1002/ajmg.a.62991

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