ALDH1A2 ‐related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway
Author:
Affiliation:
1. Rare Disease Institute Children's National Hospital Washington DC USA
2. Center for Genetic Medicine Children's National Hospital Washington DC USA
3. Division of Pediatric Otolaryngology Children's National Hospital Washington DC USA
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62991
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1. Fog2 Is Required for Normal Diaphragm and Lung Development in Mice and Humans
2. Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination
3. Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children
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5. Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects
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