| 1 | ALDH1A2, DIH4 |
| ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway. 2023 PMID: | |
| Leon E, Nde C, Ray RS, Preciado D, Zohn IE. | |
| Am J Med Genet A. Jan;191(1):90-99. doi: 10.1002/ajmg.a.62991. Epub 2022 Oct 19. 2023 | |
| 2 | ALDH1A2, DIH4 |
| Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects. | |
| Beecroft SJ, Ayala M, McGillivray G, Nanda V, Agolini E, Novelli A, Digilio MC, Dotta A, Carrozzo R, Clayton J, Gaffney L, McLean CA, Ng J, Laing NG, Matteson P, Millonig J, Ravenscroft G. | |
| Hum Mutat. May;42(5):506-519. doi: 10.1002/humu.24179. Epub 2021 Apr 1. 2021 | |